Linked Data
dbSNP Id:
rs12521522
gnomAD v2:
5-88112761-T-A
gnomAD v3:
5-88816944-T-A
gnomAD v4:
5-88816944-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.88816944T>A , CM000667.2:g.88816944T>A | GRCh38 |
| NC_000005.9:g.88112761T>A , CM000667.1:g.88112761T>A | GRCh37 |
| NC_000005.8:g.88148517T>A | NCBI36 |
| NG_023427.1:g.92162A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504921.7:c.54+6791A>T MANE Select | ENSP00000421925.5:n.54+6791A>T | |
| ENST00000635898.1:c.77+861A>T | ||
| ENST00000636294.1:c.54+6791A>T | ENSP00000490473.1:n.54+6791A>T | |
| ENST00000636541.1:c.54+6791A>T | ENSP00000489865.1:n.54+6791A>T | |
| ENST00000636998.1:c.54+6791A>T | ENSP00000490630.1:n.54+6791A>T | |
| ENST00000637481.1:c.54+6791A>T | ENSP00000490354.1:n.54+6791A>T | |
| ENST00000637732.1:c.54+6791A>T | ENSP00000490241.1:n.54+6791A>T | |
| ENST00000340208.9:c.54+6791A>T | ENSP00000340874.5:n.54+6791A>T | |
| ENST00000424173.6:c.54+6791A>T | ENSP00000389610.2:n.54+6791A>T | |
| ENST00000437473.6:c.54+6791A>T | ENSP00000396219.2:n.54+6791A>T | |
| ENST00000502831.5:c.54+6791A>T | ENSP00000427286.2:n.54+6791A>T | |
| ENST00000502983.5:c.54+6791A>T | ENSP00000427163.1:n.54+6791A>T | |
| ENST00000503075.1:c.54+6791A>T | ENSP00000426465.1:n.54+6791A>T | |
| ENST00000504921.6:c.54+6791A>T | ENSP00000421925.4:n.54+6791A>T | |
| ENST00000506554.5:c.54+6791A>T | ENSP00000425636.1:n.54+6791A>T | |
| ENST00000506716.5:c.54+6791A>T | ENSP00000423656.1:n.54+6791A>T | |
| ENST00000507984.5:c.54+6791A>T | ENSP00000424331.1:n.54+6791A>T | |
| ENST00000508569.5:c.54+6791A>T | ENSP00000423597.2:n.54+6791A>T | |
| ENST00000508610.5:c.54+6791A>T | ENSP00000426442.1:n.54+6791A>T | |
| ENST00000509373.1:c.54+6791A>T | ENSP00000427309.1:n.54+6791A>T | |
| ENST00000510942.5:c.54+6791A>T | ENSP00000422390.2:n.54+6791A>T | |
| ENST00000511086.1:n.413+6791A>T | ||
| ENST00000513252.5:c.54+6791A>T | ENSP00000423826.1:n.54+6791A>T | |
| ENST00000514015.5:c.54+6791A>T | ENSP00000424606.1:n.54+6791A>T | |
| ENST00000514028.5:c.54+6791A>T | ENSP00000426665.2:n.54+6791A>T | |
| ENST00000625585.2:c.54+6791A>T | ENSP00000487538.1:n.54+6791A>T | |
| ENST00000625674.2:c.54+6791A>T | ENSP00000487430.1:n.54+6791A>T | |
| ENST00000626391.2:c.54+6791A>T | ENSP00000487184.1:n.54+6791A>T | |
| ENST00000627659.2:c.54+6791A>T | ENSP00000486490.1:n.54+6791A>T | |
| ENST00000628656.2:c.54+6791A>T | ENSP00000487311.1:n.54+6791A>T | |
| ENST00000629612.2:c.54+6791A>T | ENSP00000486554.1:n.54+6791A>T | |
| ENST00000631026.2:c.54+6791A>T | ENSP00000485972.1:n.54+6791A>T | |
| NM_001131005.2:c.54+6791A>T | NP_001124477.1:n.54+6791A>T | |
| NM_001193347.1:c.54+6791A>T | NP_001180276.1:n.54+6791A>T | |
| NM_001193348.1:c.54+6791A>T | NP_001180277.1:n.54+6791A>T | |
| NM_001193349.1:c.54+6791A>T | NP_001180278.1:n.54+6791A>T | |
| NM_001193350.1:c.54+6791A>T | NP_001180279.1:n.54+6791A>T | |
| NM_001308002.1:c.54+6791A>T | NP_001294931.1:n.54+6791A>T | |
| NM_002397.4:c.54+6791A>T | NP_002388.2:n.54+6791A>T | |
| XM_005248511.1:c.54+6791A>T | XP_005248568.1:n.54+6791A>T | |
| XM_006714618.1:c.54+6791A>T | XP_006714681.1:n.54+6791A>T | |
| XM_006714619.1:c.54+6791A>T | XP_006714682.1:n.54+6791A>T | |
| XM_006714625.2:c.54+6791A>T | XP_006714688.1:n.54+6791A>T | |
| XM_011543396.1:c.54+6791A>T | XP_011541698.1:n.54+6791A>T | |
| XM_011543397.1:c.54+6791A>T | XP_011541699.1:n.54+6791A>T | |
| XM_011543399.1:c.54+6791A>T | XP_011541701.1:n.54+6791A>T | |
| XM_011543400.1:c.54+6791A>T | XP_011541702.1:n.54+6791A>T | |
| XM_011543401.1:c.54+6791A>T | XP_011541703.1:n.54+6791A>T | |
| XM_011543402.1:c.54+6791A>T | XP_011541704.1:n.54+6791A>T | |
| XM_011543403.1:c.54+6791A>T | XP_011541705.1:n.54+6791A>T | |
| XM_011543404.1:c.54+6791A>T | XP_011541706.1:n.54+6791A>T | |
| XM_011543405.1:c.54+6791A>T | XP_011541707.1:n.54+6791A>T | |
| NM_001193349.2:c.54+6791A>T | NP_001180278.1:n.54+6791A>T | |
| NM_001308002.2:c.54+6791A>T | NP_001294931.1:n.54+6791A>T | |
| NM_001363581.1:c.54+6791A>T | NP_001350510.1:n.54+6791A>T | |
| NM_001364329.1:c.54+6791A>T | NP_001351258.1:n.54+6791A>T | |
| NM_001364330.1:c.54+6791A>T | NP_001351259.1:n.54+6791A>T | |
| NM_001364331.1:c.54+6791A>T | NP_001351260.1:n.54+6791A>T | |
| NM_001364332.1:c.54+6791A>T | NP_001351261.1:n.54+6791A>T | |
| NM_001364333.1:c.54+6791A>T | NP_001351262.1:n.54+6791A>T | |
| NM_001364334.1:c.54+6791A>T | NP_001351263.1:n.54+6791A>T | |
| NM_001364335.1:c.54+6791A>T | NP_001351264.1:n.54+6791A>T | |
| NM_001364336.1:c.54+6791A>T | NP_001351265.1:n.54+6791A>T | |
| NM_001364337.1:c.54+6791A>T | NP_001351266.1:n.54+6791A>T | |
| NM_001364338.1:c.54+6791A>T | NP_001351267.1:n.54+6791A>T | |
| NM_001364339.1:c.54+6791A>T | NP_001351268.1:n.54+6791A>T | |
| NM_001364340.1:c.54+6791A>T | NP_001351269.1:n.54+6791A>T | |
| NM_001364341.1:c.54+6791A>T | NP_001351270.1:n.54+6791A>T | |
| NM_001364342.1:c.54+6791A>T | NP_001351271.1:n.54+6791A>T | |
| NM_001364343.1:c.54+6791A>T | NP_001351272.1:n.54+6791A>T | |
| NM_001364344.1:c.54+6791A>T | NP_001351273.1:n.54+6791A>T | |
| NM_001364345.1:c.54+6791A>T | NP_001351274.1:n.54+6791A>T | |
| NM_001364346.1:c.54+6791A>T | NP_001351275.1:n.54+6791A>T | |
| NM_001364347.1:c.54+6791A>T | NP_001351276.1:n.54+6791A>T | |
| NM_001364348.1:c.54+6791A>T | NP_001351277.1:n.54+6791A>T | |
| NM_001364349.1:c.54+6791A>T | NP_001351278.1:n.54+6791A>T | |
| NM_001364350.1:c.54+6791A>T | NP_001351279.1:n.54+6791A>T | |
| NM_001364352.1:c.54+6791A>T | NP_001351281.1:n.54+6791A>T | |
| NM_001364354.1:c.54+6791A>T | NP_001351283.1:n.54+6791A>T | |
| NM_001364355.1:c.54+6791A>T | NP_001351284.1:n.54+6791A>T | |
| XM_005248511.3:c.54+6791A>T | XP_005248568.1:n.54+6791A>T | |
| XM_006714625.4:c.54+6791A>T | XP_006714688.1:n.54+6791A>T | |
| XM_011543396.3:c.54+6791A>T | XP_011541698.1:n.54+6791A>T | |
| XM_011543397.3:c.54+6791A>T | XP_011541699.1:n.54+6791A>T | |
| XM_017009475.2:c.54+6791A>T | XP_016864964.1:n.54+6791A>T | |
| XM_017009478.2:c.54+6791A>T | XP_016864967.1:n.54+6791A>T | |
| XM_024446055.1:c.54+6791A>T | XP_024301823.1:n.54+6791A>T | |
| XM_024446056.1:c.54+6791A>T | XP_024301824.1:n.54+6791A>T | |
| XM_024446057.1:c.54+6791A>T | XP_024301825.1:n.54+6791A>T | |
| XM_024446058.1:c.54+6791A>T | XP_024301826.1:n.54+6791A>T | |
| XM_024446059.1:c.54+6791A>T | XP_024301827.1:n.54+6791A>T | |
| NM_001193350.2:c.54+6791A>T | NP_001180279.1:n.54+6791A>T | |
| NM_001308002.3:c.54+6791A>T | NP_001294931.1:n.54+6791A>T | |
| NM_001364329.2:c.54+6791A>T | NP_001351258.1:n.54+6791A>T | |
| NM_001364330.2:c.54+6791A>T | NP_001351259.1:n.54+6791A>T | |
| NM_001364331.2:c.54+6791A>T | NP_001351260.1:n.54+6791A>T | |
| NM_001364333.2:c.54+6791A>T | NP_001351262.1:n.54+6791A>T | |
| NM_001364339.2:c.54+6791A>T | NP_001351268.1:n.54+6791A>T | |
| NM_001364344.2:c.54+6791A>T | NP_001351273.1:n.54+6791A>T | |
| NM_001364345.2:c.54+6791A>T | NP_001351274.1:n.54+6791A>T | |
| NM_001364346.2:c.54+6791A>T | NP_001351275.1:n.54+6791A>T | |
| NM_001364347.2:c.54+6791A>T | NP_001351276.1:n.54+6791A>T | |
| NM_001364348.2:c.54+6791A>T | NP_001351277.1:n.54+6791A>T | |
| NM_001364349.2:c.54+6791A>T | NP_001351278.1:n.54+6791A>T | |
| NM_001364352.2:c.54+6791A>T | NP_001351281.1:n.54+6791A>T | |
| NM_001364354.2:c.54+6791A>T | NP_001351283.1:n.54+6791A>T | |
| NM_001364355.2:c.54+6791A>T | NP_001351284.1:n.54+6791A>T | |
| NM_002397.5:c.54+6791A>T MANE Select | NP_002388.2:n.54+6791A>T | |
| NM_001193349.3:c.54+6791A>T | NP_001180278.1:n.54+6791A>T | |
| NM_001363581.2:c.54+6791A>T | NP_001350510.1:n.54+6791A>T | |
| NM_001364332.2:c.54+6791A>T | NP_001351261.1:n.54+6791A>T | |
| NM_001364334.2:c.54+6791A>T | NP_001351263.1:n.54+6791A>T | |
| NM_001364335.2:c.54+6791A>T | NP_001351264.1:n.54+6791A>T | |
| NM_001364336.2:c.54+6791A>T | NP_001351265.1:n.54+6791A>T | |
| NM_001364337.2:c.54+6791A>T | NP_001351266.1:n.54+6791A>T | |
| NM_001364338.2:c.54+6791A>T | NP_001351267.1:n.54+6791A>T | |
| NM_001364340.2:c.54+6791A>T | NP_001351269.1:n.54+6791A>T | |
| NM_001364341.2:c.54+6791A>T | NP_001351270.1:n.54+6791A>T | |
| NM_001364342.2:c.54+6791A>T | NP_001351271.1:n.54+6791A>T | |
| NM_001364343.2:c.54+6791A>T | NP_001351272.1:n.54+6791A>T | |
| NM_001364350.2:c.54+6791A>T | NP_001351279.1:n.54+6791A>T |