Linked Data
ClinVar Variation Id:
239768
ClinVar RCV Id:
RCV000231175
dbSNP Id:
rs772747279
gnomAD v2:
8-145736859-G-A
gnomAD v3:
8-144511476-G-A
gnomAD v4:
8-144511476-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144511476G>A , CM000670.2:g.144511476G>A | GRCh38 |
| NC_000008.10:g.145736859G>A , CM000670.1:g.145736859G>A | GRCh37 |
| NC_000008.9:g.145707667G>A | NCBI36 |
| NG_016430.1:g.11351C>T | |
| NG_016430.2:g.11351C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.3582C>T MANE Select | ENSP00000482313.2:p.Ala1194= | |
| ENST00000301323.7:c.599C>T | ||
| ENST00000529424.2:n.238C>T | ||
| ENST00000531875.2:c.837C>T | ENSP00000477910.1:p.Ala279= | |
| ENST00000617875.4:c.3582C>T | ENSP00000482313.1:p.Ala1194= | |
| ENST00000621189.4:c.2511C>T | ENSP00000483145.1:p.Ala837= | |
| NM_004260.3:c.3582C>T | NP_004251.3:p.Ala1194= | |
| XM_011517380.1:c.3657C>T | XP_011515682.1:p.Ala1219= | |
| XM_011517381.1:c.3561C>T | XP_011515683.1:p.Ala1187= | |
| XM_011517382.1:c.3465C>T | XP_011515684.1:p.Ala1155= | |
| XM_011517383.1:c.3459C>T | XP_011515685.1:p.Ala1153= | |
| XM_011517384.1:c.3384C>T | XP_011515686.1:p.Ala1128= | |
| XM_011517385.1:c.2520C>T | XP_011515687.1:p.Ala840= | |
| XR_928366.1:n.3541C>T | ||
| XR_928367.1:n.3637C>T | ||
| XR_928368.1:n.3530C>T | ||
| XM_011517384.3:c.3384C>T | XP_011515686.1:p.Ala1128= | |
| XM_017013991.2:c.3868C>T | XP_016869480.1:p.Pro1290Ser | |
| XM_017013992.2:c.3793C>T | XP_016869481.1:p.Pro1265Ser | |
| XM_017013993.2:c.3778C>T | XP_016869482.1:p.Pro1260Ser | |
| XM_017013994.2:c.3772C>T | XP_016869483.1:p.Pro1258Ser | |
| XM_017013995.2:c.3703C>T | XP_016869484.1:p.Pro1235Ser | |
| XM_017013996.2:c.3747C>T | XP_016869485.1:p.Ala1249= | |
| XM_017013997.2:c.3670C>T | XP_016869486.1:p.Pro1224Ser | |
| XM_017013998.1:c.3672C>T | XP_016869487.1:p.Ala1224= | |
| XM_017013999.2:c.3580C>T | XP_016869488.1:p.Pro1194Ser | |
| XM_017014000.1:c.2731C>T | XP_016869489.1:p.Pro911Ser | |
| XM_017014001.2:c.2641C>T | XP_016869490.1:p.Pro881Ser | |
| XR_001745626.2:n.3627C>T | ||
| XR_001745627.2:n.3723C>T | ||
| XR_001745628.2:n.3614C>T | ||
| XR_001745629.2:n.3477C>T | ||
| XR_001745630.2:n.3279C>T | ||
| NM_004260.4:c.3582C>T MANE Select | NP_004251.4:p.Ala1194= |