Linked Data
ClinVar Variation Id:
433315
ClinVar RCV Id:
RCV000499302
dbSNP Id:
rs63749807
gnomAD v2:
16-16256959-C-A
gnomAD v4:
16-16163102-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16163102C>A , CM000678.2:g.16163102C>A | GRCh38 |
| NC_000016.9:g.16256959C>A , CM000678.1:g.16256959C>A | GRCh37 |
| NC_000016.8:g.16164460C>A | NCBI36 |
| NG_007558.2:g.65370G>T | |
| NG_007558.3:g.65516G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3397G>T | ENSP00000483331.2:p.Gly1133Cys | |
| ENST00000205557.12:c.3397G>T MANE Select | ENSP00000205557.7:p.Gly1133Cys | |
| ENST00000640696.1:c.321-1538G>T | ENSP00000492197.1:n.321-1538G>T | |
| ENST00000205557.11:c.3397G>T | ENSP00000205557.7:p.Gly1133Cys | |
| ENST00000456970.6:c.3132-1538G>T | ENSP00000405002.2:n.3132-1538G>T | |
| ENST00000622290.4:c.*606G>T | ENSP00000483331.1:n.*606G>T | |
| NM_001171.5:c.3397G>T | NP_001162.4:p.Gly1133Cys | |
| XM_011522479.1:c.3364G>T | XP_011520781.1:p.Gly1122Cys | |
| XM_011522480.1:c.3055G>T | XP_011520782.1:p.Gly1019Cys | |
| XM_011522481.1:c.3055G>T | XP_011520783.1:p.Gly1019Cys | |
| XR_932836.1:n.3632G>T | ||
| XR_932837.1:n.3543-1538G>T | ||
| XR_932838.1:n.3543-1538G>T | ||
| XR_933133.1:n.407+259C>A | ||
| XR_933134.1:n.754+259C>A | ||
| NM_001351800.1:c.3055G>T | NP_001338729.1:p.Gly1019Cys | |
| NR_147784.1:n.3169-1538G>T | ||
| XM_011522479.2:c.3364G>T | XP_011520781.1:p.Gly1122Cys | |
| XM_011522481.3:c.3055G>T | XP_011520783.1:p.Gly1019Cys | |
| XM_017023212.1:c.3229G>T | XP_016878701.1:p.Gly1077Cys | |
| XM_017023214.1:c.3307-1538G>T | XP_016878703.1:n.3307-1538G>T | |
| XM_024450261.1:c.3433G>T | XP_024306029.1:p.Gly1145Cys | |
| XR_932836.2:n.3578G>T | ||
| XR_932837.3:n.3488-1538G>T | ||
| XR_932838.3:n.3488-1538G>T | ||
| NM_001171.6:c.3397G>T MANE Select | NP_001162.5:p.Gly1133Cys |