Linked Data
dbSNP Id:
rs779854319
ExAC:
19:41206126 G / A
gnomAD v2:
19-41206126-G-A
gnomAD v4:
19-40700221-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40700221G>A , CM000681.2:g.40700221G>A | GRCh38 |
| NC_000019.9:g.41206126G>A , CM000681.1:g.41206126G>A | GRCh37 |
| NC_000019.8:g.45897966G>A | NCBI36 |
| NG_027800.1:g.21665C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324464.8:c.1036-47C>T MANE Select | ENSP00000315118.3:n.1036-47C>T | |
| ENST00000593724.2:n.2859-47C>T | ||
| ENST00000594490.6:c.958-47C>T | ENSP00000471310.2:n.958-47C>T | |
| ENST00000594720.6:c.1036-47C>T | ENSP00000470876.2:n.1036-47C>T | |
| ENST00000596455.6:n.1328-47C>T | ||
| ENST00000601967.6:c.1036-47C>T | ENSP00000470916.2:n.1036-47C>T | |
| ENST00000676555.1:c.1036-47C>T | ENSP00000503387.1:n.1036-47C>T | |
| ENST00000676578.1:c.*778-47C>T | ENSP00000504076.1:n.*778-47C>T | |
| ENST00000676960.1:n.1161-47C>T | ||
| ENST00000676962.1:n.1315-47C>T | ||
| ENST00000677018.1:c.1036-47C>T | ENSP00000503480.1:n.1036-47C>T | |
| ENST00000677039.1:n.3239-47C>T | ||
| ENST00000677399.1:n.1478-47C>T | ||
| ENST00000677496.1:c.709-47C>T | ENSP00000504773.1:n.709-47C>T | |
| ENST00000677517.1:c.709-47C>T | ENSP00000503519.1:n.709-47C>T | |
| ENST00000677633.1:c.*459-47C>T | ENSP00000503645.1:n.*459-47C>T | |
| ENST00000677800.1:c.*4140-47C>T | ENSP00000503794.1:n.*4140-47C>T | |
| ENST00000678057.1:c.*600-47C>T | ENSP00000503762.1:n.*600-47C>T | |
| ENST00000678119.1:n.1230-47C>T | ||
| ENST00000678166.1:n.1179-47C>T | ||
| ENST00000678312.1:n.1373-47C>T | ||
| ENST00000678316.1:c.*459-47C>T | ENSP00000504112.1:n.*459-47C>T | |
| ENST00000678371.1:n.1486-47C>T | ||
| ENST00000678404.1:c.1036-47C>T | ENSP00000503944.1:n.1036-47C>T | |
| ENST00000678419.1:c.1036-47C>T | ENSP00000504085.1:n.1036-47C>T | |
| ENST00000678433.1:n.1392-47C>T | ||
| ENST00000678467.1:c.1036-47C>T | ENSP00000504072.1:n.1036-47C>T | |
| ENST00000678569.1:c.*21-47C>T | ENSP00000504261.1:n.*21-47C>T | |
| ENST00000678961.1:n.1391-47C>T | ||
| ENST00000679002.1:n.1215-47C>T | ||
| ENST00000679012.1:c.592-47C>T | ENSP00000504446.1:n.592-47C>T | |
| ENST00000679070.1:c.*455-47C>T | ENSP00000503759.1:n.*455-47C>T | |
| ENST00000679130.1:c.1036-47C>T | ENSP00000504845.1:n.1036-47C>T | |
| ENST00000679315.1:c.*866-47C>T | ENSP00000503065.1:n.*866-47C>T | |
| ENST00000243583.10:c.913-47C>T | ENSP00000243583.5:n.913-47C>T | |
| ENST00000324464.7:c.1036-47C>T | ENSP00000315118.3:n.1036-47C>T | |
| ENST00000593724.1:n.1151-47C>T | ||
| NM_001142555.2:c.913-47C>T | NP_001136027.1:n.913-47C>T | |
| NM_024876.3:c.1036-47C>T | NP_079152.3:n.1036-47C>T | |
| XM_005259270.3:c.1198-47C>T | XP_005259327.2:n.1198-47C>T | |
| XM_005259271.3:c.1036-47C>T | XP_005259328.1:n.1036-47C>T | |
| XM_005259272.3:c.1036-47C>T | XP_005259329.1:n.1036-47C>T | |
| XM_005259273.3:c.1036-47C>T | XP_005259330.1:n.1036-47C>T | |
| XM_006723392.2:c.1036-47C>T | XP_006723455.1:n.1036-47C>T | |
| XM_006723393.2:c.1036-47C>T | XP_006723456.1:n.1036-47C>T | |
| XM_011527334.1:c.1036-47C>T | XP_011525636.1:n.1036-47C>T | |
| XM_011527335.1:c.895-47C>T | XP_011525637.1:n.895-47C>T | |
| XM_011527336.1:c.1066-47C>T | XP_011525638.1:n.1066-47C>T | |
| XM_011527337.1:c.1036-47C>T | XP_011525639.1:n.1036-47C>T | |
| XM_011527338.1:c.1036-47C>T | XP_011525640.1:n.1036-47C>T | |
| NM_024876.4:c.1036-47C>T MANE Select | NP_079152.3:n.1036-47C>T | |
| NM_001142555.3:c.913-47C>T | NP_001136027.1:n.913-47C>T |