Linked Data
ClinVar Variation Id:
56409
ClinVar RCV Id:
RCV000049822
dbSNP Id:
rs137853230
ExAC:
8:145737416 G / A
gnomAD v2:
8-145737416-G-A
gnomAD v4:
8-144512033-G-A
PubMed:
PMID:12952869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144512033G>A , CM000670.2:g.144512033G>A | GRCh38 |
| NC_000008.10:g.145737416G>A , CM000670.1:g.145737416G>A | GRCh37 |
| NC_000008.9:g.145708224G>A | NCBI36 |
| NG_016430.1:g.10794C>T | |
| NG_016430.2:g.10794C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617875.6:c.3271C>T MANE Select | ENSP00000482313.2:p.Gln1091Ter | |
| ENST00000301323.7:c.288C>T | ||
| ENST00000529424.2:n.50-244C>T | ||
| ENST00000531875.2:c.517C>T | ENSP00000477910.1:p.Gln173Ter | |
| ENST00000617875.4:c.3271C>T | ENSP00000482313.1:p.Gln1091Ter | |
| ENST00000621189.4:c.2200C>T | ENSP00000483145.1:p.Gln734Ter | |
| NM_004260.3:c.3271C>T | NP_004251.3:p.Gln1091Ter | |
| XM_011517380.1:c.3346C>T | XP_011515682.1:p.Gln1116Ter | |
| XM_011517381.1:c.3250C>T | XP_011515683.1:p.Gln1084Ter | |
| XM_011517382.1:c.3154C>T | XP_011515684.1:p.Gln1052Ter | |
| XM_011517383.1:c.3148C>T | XP_011515685.1:p.Gln1050Ter | |
| XM_011517384.1:c.3073C>T | XP_011515686.1:p.Gln1025Ter | |
| XM_011517385.1:c.2209C>T | XP_011515687.1:p.Gln737Ter | |
| XR_928366.1:n.3352+111C>T | ||
| XR_928367.1:n.3326C>T | ||
| XR_928368.1:n.3219C>T | ||
| XM_011517384.3:c.3073C>T | XP_011515686.1:p.Gln1025Ter | |
| XM_017013991.2:c.3436C>T | XP_016869480.1:p.Gln1146Ter | |
| XM_017013992.2:c.3361C>T | XP_016869481.1:p.Gln1121Ter | |
| XM_017013993.2:c.3346C>T | XP_016869482.1:p.Gln1116Ter | |
| XM_017013994.2:c.3340C>T | XP_016869483.1:p.Gln1114Ter | |
| XM_017013995.2:c.3271C>T | XP_016869484.1:p.Gln1091Ter | |
| XM_017013996.2:c.3436C>T | XP_016869485.1:p.Gln1146Ter | |
| XM_017013997.2:c.3238C>T | XP_016869486.1:p.Gln1080Ter | |
| XM_017013998.1:c.3361C>T | XP_016869487.1:p.Gln1121Ter | |
| XM_017013999.2:c.3148C>T | XP_016869488.1:p.Gln1050Ter | |
| XM_017014000.1:c.2299C>T | XP_016869489.1:p.Gln767Ter | |
| XM_017014001.2:c.2209C>T | XP_016869490.1:p.Gln737Ter | |
| XR_001745626.2:n.3438+111C>T | ||
| XR_001745627.2:n.3412C>T | ||
| XR_001745628.2:n.3303C>T | ||
| XR_001745629.2:n.3166C>T | ||
| XR_001745630.2:n.2968C>T | ||
| NM_004260.4:c.3271C>T MANE Select | NP_004251.4:p.Gln1091Ter |