Linked Data
ClinVar Variation Id:
414220
ClinVar RCV Id:
RCV000461341
dbSNP Id:
rs1060504216
gnomAD v2:
8-145740577-G-A
gnomAD v3:
8-144515193-G-A
gnomAD v4:
8-144515193-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144515193G>A , CM000670.2:g.144515193G>A | GRCh38 |
| NC_000008.10:g.145740577G>A , CM000670.1:g.145740577G>A | GRCh37 |
| NC_000008.9:g.145711385G>A | NCBI36 |
| NG_016430.1:g.7634C>T | |
| NG_033083.1:g.2229G>A | |
| NG_016430.2:g.7634C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688394.1:n.463C>T | ||
| ENST00000617875.6:c.1440C>T MANE Select | ENSP00000482313.2:p.Ala480= | |
| ENST00000532846.2:c.325C>T | ||
| ENST00000617875.4:c.1440C>T | ENSP00000482313.1:p.Ala480= | |
| ENST00000621189.4:c.369C>T | ENSP00000483145.1:p.Ala123= | |
| NM_004260.3:c.1440C>T | NP_004251.3:p.Ala480= | |
| XM_011517380.1:c.1440C>T | XP_011515682.1:p.Ala480= | |
| XM_011517381.1:c.1344C>T | XP_011515683.1:p.Ala448= | |
| XM_011517382.1:c.1440C>T | XP_011515684.1:p.Ala480= | |
| XM_011517383.1:c.1440C>T | XP_011515685.1:p.Ala480= | |
| XM_011517384.1:c.1440C>T | XP_011515686.1:p.Ala480= | |
| XM_011517385.1:c.303C>T | XP_011515687.1:p.Ala101= | |
| XR_928366.1:n.1481C>T | ||
| XR_928367.1:n.1481C>T | ||
| XR_928368.1:n.1483C>T | ||
| XM_011517384.3:c.1440C>T | XP_011515686.1:p.Ala480= | |
| XM_017013991.2:c.1440C>T | XP_016869480.1:p.Ala480= | |
| XM_017013992.2:c.1440C>T | XP_016869481.1:p.Ala480= | |
| XM_017013993.2:c.1440C>T | XP_016869482.1:p.Ala480= | |
| XM_017013994.2:c.1344C>T | XP_016869483.1:p.Ala448= | |
| XM_017013995.2:c.1440C>T | XP_016869484.1:p.Ala480= | |
| XM_017013996.2:c.1440C>T | XP_016869485.1:p.Ala480= | |
| XM_017013997.2:c.1440C>T | XP_016869486.1:p.Ala480= | |
| XM_017013998.1:c.1440C>T | XP_016869487.1:p.Ala480= | |
| XM_017013999.2:c.1440C>T | XP_016869488.1:p.Ala480= | |
| XM_017014000.1:c.303C>T | XP_016869489.1:p.Ala101= | |
| XM_017014001.2:c.303C>T | XP_016869490.1:p.Ala101= | |
| XR_001745626.2:n.1477C>T | ||
| XR_001745627.2:n.1477C>T | ||
| XR_001745628.2:n.1477C>T | ||
| XR_001745629.2:n.1477C>T | ||
| XR_001745630.2:n.1477C>T | ||
| NM_004260.4:c.1440C>T MANE Select | NP_004251.4:p.Ala480= |