Linked Data
ClinVar Variation Id:
8947
ClinVar RCV Id:
RCV000009503
dbSNP Id:
rs267607233
PubMed:
PMID:19592390
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.88731856G>C , CM000667.2:g.88731856G>C | GRCh38 |
| NC_000005.9:g.88027673G>C , CM000667.1:g.88027673G>C | GRCh37 |
| NC_000005.8:g.88063429G>C | NCBI36 |
| NG_023427.1:g.177250C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707127.1:c.305C>G | ENSP00000516755.1:p.Ser102Ter | |
| ENST00000503554.4:c.305C>G | ENSP00000487437.2:p.Ser102Ter | |
| ENST00000504921.7:c.683C>G MANE Select | ENSP00000421925.5:p.Ser228Ter | |
| ENST00000636143.1:n.620C>G | ||
| ENST00000636294.1:c.683C>G | ENSP00000490473.1:p.Ser228Ter | |
| ENST00000636998.1:c.683C>G | ENSP00000490630.1:p.Ser228Ter | |
| ENST00000637481.1:c.674C>G | ENSP00000490354.1:p.Ser225Ter | |
| ENST00000637732.1:c.683C>G | ENSP00000490241.1:p.Ser228Ter | |
| ENST00000340208.9:c.737C>G | ENSP00000340874.5:p.Ser246Ter | |
| ENST00000424173.6:c.677C>G | ENSP00000389610.2:p.Ser226Ter | |
| ENST00000437473.6:c.683C>G | ENSP00000396219.2:p.Ser228Ter | |
| ENST00000503554.3:c.305C>G | ENSP00000487437.1:p.Ser102Ter | |
| ENST00000504921.6:c.683C>G | ENSP00000421925.4:p.Ser228Ter | |
| ENST00000506554.5:c.683C>G | ENSP00000425636.1:p.Ser228Ter | |
| ENST00000506716.5:c.677C>G | ENSP00000423656.1:p.Ser226Ter | |
| ENST00000508569.5:c.683C>G | ENSP00000423597.2:p.Ser228Ter | |
| ENST00000510942.5:c.683C>G | ENSP00000422390.2:p.Ser228Ter | |
| ENST00000513252.5:c.677C>G | ENSP00000423826.1:p.Ser226Ter | |
| ENST00000514015.5:c.683C>G | ENSP00000424606.1:p.Ser228Ter | |
| ENST00000514028.5:c.683C>G | ENSP00000426665.2:p.Ser228Ter | |
| ENST00000515715.2:n.101C>G | ||
| ENST00000625585.2:c.677C>G | ENSP00000487538.1:p.Ser226Ter | |
| ENST00000625674.2:c.677C>G | ENSP00000487430.1:p.Ser226Ter | |
| ENST00000626391.2:c.539C>G | ENSP00000487184.1:p.Ser180Ter | |
| ENST00000627659.2:c.677C>G | ENSP00000486490.1:p.Ser226Ter | |
| ENST00000627717.2:c.92C>G | ENSP00000486932.1:p.Ser31Ter | |
| ENST00000628656.2:c.539C>G | ENSP00000487311.1:p.Ser180Ter | |
| ENST00000629612.2:c.683C>G | ENSP00000486554.1:p.Ser228Ter | |
| NM_001131005.2:c.677C>G | NP_001124477.1:p.Ser226Ter | |
| NM_001193347.1:c.737C>G | NP_001180276.1:p.Ser246Ter | |
| NM_001193348.1:c.539C>G | NP_001180277.1:p.Ser180Ter | |
| NM_001193349.1:c.539C>G | NP_001180278.1:p.Ser180Ter | |
| NM_001193350.1:c.683C>G | NP_001180279.1:p.Ser228Ter | |
| NM_001308002.1:c.683C>G | NP_001294931.1:p.Ser228Ter | |
| NM_002397.4:c.683C>G | NP_002388.2:p.Ser228Ter | |
| XM_005248511.1:c.683C>G | XP_005248568.1:p.Ser228Ter | |
| XM_006714618.1:c.683C>G | XP_006714681.1:p.Ser228Ter | |
| XM_006714619.1:c.683C>G | XP_006714682.1:p.Ser228Ter | |
| XM_006714625.2:c.737C>G | XP_006714688.1:p.Ser246Ter | |
| XM_011543396.1:c.683C>G | XP_011541698.1:p.Ser228Ter | |
| XM_011543397.1:c.677C>G | XP_011541699.1:p.Ser226Ter | |
| XM_011543399.1:c.677C>G | XP_011541701.1:p.Ser226Ter | |
| XM_011543400.1:c.683C>G | XP_011541702.1:p.Ser228Ter | |
| XM_011543401.1:c.683C>G | XP_011541703.1:p.Ser228Ter | |
| XM_011543402.1:c.677C>G | XP_011541704.1:p.Ser226Ter | |
| XM_011543403.1:c.539C>G | XP_011541705.1:p.Ser180Ter | |
| XM_011543404.1:c.539C>G | XP_011541706.1:p.Ser180Ter | |
| XM_011543405.1:c.539C>G | XP_011541707.1:p.Ser180Ter | |
| NM_001193349.2:c.539C>G | NP_001180278.1:p.Ser180Ter | |
| NM_001308002.2:c.683C>G | NP_001294931.1:p.Ser228Ter | |
| NM_001363581.1:c.683C>G | NP_001350510.1:p.Ser228Ter | |
| NM_001364329.1:c.683C>G | NP_001351258.1:p.Ser228Ter | |
| NM_001364330.1:c.683C>G | NP_001351259.1:p.Ser228Ter | |
| NM_001364331.1:c.683C>G | NP_001351260.1:p.Ser228Ter | |
| NM_001364332.1:c.539C>G | NP_001351261.1:p.Ser180Ter | |
| NM_001364333.1:c.683C>G | NP_001351262.1:p.Ser228Ter | |
| NM_001364334.1:c.683C>G | NP_001351263.1:p.Ser228Ter | |
| NM_001364335.1:c.683C>G | NP_001351264.1:p.Ser228Ter | |
| NM_001364336.1:c.683C>G | NP_001351265.1:p.Ser228Ter | |
| NM_001364337.1:c.683C>G | NP_001351266.1:p.Ser228Ter | |
| NM_001364338.1:c.737C>G | NP_001351267.1:p.Ser246Ter | |
| NM_001364339.1:c.683C>G | NP_001351268.1:p.Ser228Ter | |
| NM_001364340.1:c.683C>G | NP_001351269.1:p.Ser228Ter | |
| NM_001364341.1:c.683C>G | NP_001351270.1:p.Ser228Ter | |
| NM_001364342.1:c.683C>G | NP_001351271.1:p.Ser228Ter | |
| NM_001364343.1:c.677C>G | NP_001351272.1:p.Ser226Ter | |
| NM_001364344.1:c.539C>G | NP_001351273.1:p.Ser180Ter | |
| NM_001364345.1:c.683C>G | NP_001351274.1:p.Ser228Ter | |
| NM_001364346.1:c.683C>G | NP_001351275.1:p.Ser228Ter | |
| NM_001364347.1:c.683C>G | NP_001351276.1:p.Ser228Ter | |
| NM_001364348.1:c.683C>G | NP_001351277.1:p.Ser228Ter | |
| NM_001364349.1:c.683C>G | NP_001351278.1:p.Ser228Ter | |
| NM_001364350.1:c.683C>G | NP_001351279.1:p.Ser228Ter | |
| NM_001364352.1:c.677C>G | NP_001351281.1:p.Ser226Ter | |
| NM_001364353.1:c.305C>G | NP_001351282.1:p.Ser102Ter | |
| NM_001364354.1:c.539C>G | NP_001351283.1:p.Ser180Ter | |
| NM_001364355.1:c.539C>G | NP_001351284.1:p.Ser180Ter | |
| NM_001364356.1:c.305C>G | NP_001351285.1:p.Ser102Ter | |
| NM_001364357.1:c.257C>G | NP_001351286.1:p.Ser86Ter | |
| XM_005248511.3:c.683C>G | XP_005248568.1:p.Ser228Ter | |
| XM_006714625.4:c.737C>G | XP_006714688.1:p.Ser246Ter | |
| XM_011543396.3:c.683C>G | XP_011541698.1:p.Ser228Ter | |
| XM_011543397.3:c.677C>G | XP_011541699.1:p.Ser226Ter | |
| XM_017009475.2:c.677C>G | XP_016864964.1:p.Ser226Ter | |
| XM_017009478.2:c.677C>G | XP_016864967.1:p.Ser226Ter | |
| XM_024446055.1:c.683C>G | XP_024301823.1:p.Ser228Ter | |
| XM_024446056.1:c.683C>G | XP_024301824.1:p.Ser228Ter | |
| XM_024446057.1:c.677C>G | XP_024301825.1:p.Ser226Ter | |
| XM_024446058.1:c.677C>G | XP_024301826.1:p.Ser226Ter | |
| XM_024446059.1:c.677C>G | XP_024301827.1:p.Ser226Ter | |
| NM_001193350.2:c.683C>G | NP_001180279.1:p.Ser228Ter | |
| NM_001308002.3:c.683C>G | NP_001294931.1:p.Ser228Ter | |
| NM_001364329.2:c.683C>G | NP_001351258.1:p.Ser228Ter | |
| NM_001364330.2:c.683C>G | NP_001351259.1:p.Ser228Ter | |
| NM_001364331.2:c.683C>G | NP_001351260.1:p.Ser228Ter | |
| NM_001364333.2:c.683C>G | NP_001351262.1:p.Ser228Ter | |
| NM_001364339.2:c.683C>G | NP_001351268.1:p.Ser228Ter | |
| NM_001364344.2:c.539C>G | NP_001351273.1:p.Ser180Ter | |
| NM_001364345.2:c.683C>G | NP_001351274.1:p.Ser228Ter | |
| NM_001364346.2:c.683C>G | NP_001351275.1:p.Ser228Ter | |
| NM_001364347.2:c.683C>G | NP_001351276.1:p.Ser228Ter | |
| NM_001364348.2:c.683C>G | NP_001351277.1:p.Ser228Ter | |
| NM_001364349.2:c.683C>G | NP_001351278.1:p.Ser228Ter | |
| NM_001364352.2:c.677C>G | NP_001351281.1:p.Ser226Ter | |
| NM_001364353.2:c.305C>G | NP_001351282.1:p.Ser102Ter | |
| NM_001364354.2:c.539C>G | NP_001351283.1:p.Ser180Ter | |
| NM_001364355.2:c.539C>G | NP_001351284.1:p.Ser180Ter | |
| NM_002397.5:c.683C>G MANE Select | NP_002388.2:p.Ser228Ter | |
| NM_001193349.3:c.539C>G | NP_001180278.1:p.Ser180Ter | |
| NM_001363581.2:c.683C>G | NP_001350510.1:p.Ser228Ter | |
| NM_001364332.2:c.539C>G | NP_001351261.1:p.Ser180Ter | |
| NM_001364334.2:c.683C>G | NP_001351263.1:p.Ser228Ter | |
| NM_001364335.2:c.683C>G | NP_001351264.1:p.Ser228Ter | |
| NM_001364336.2:c.683C>G | NP_001351265.1:p.Ser228Ter | |
| NM_001364337.2:c.683C>G | NP_001351266.1:p.Ser228Ter | |
| NM_001364338.2:c.737C>G | NP_001351267.1:p.Ser246Ter | |
| NM_001364340.2:c.683C>G | NP_001351269.1:p.Ser228Ter | |
| NM_001364341.2:c.683C>G | NP_001351270.1:p.Ser228Ter | |
| NM_001364342.2:c.683C>G | NP_001351271.1:p.Ser228Ter | |
| NM_001364343.2:c.677C>G | NP_001351272.1:p.Ser226Ter | |
| NM_001364350.2:c.683C>G | NP_001351279.1:p.Ser228Ter | |
| NM_001364356.2:c.305C>G | NP_001351285.1:p.Ser102Ter | |
| NM_001364357.2:c.257C>G | NP_001351286.1:p.Ser86Ter |