Linked Data
ClinVar Variation Id:
433243
dbSNP Id:
rs72653777
ExAC:
16:16281050 G / A
gnomAD v2:
16-16281050-G-A
gnomAD v3:
16-16187193-G-A
gnomAD v4:
16-16187193-G-A
PubMed:
PMID:15459974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16187193G>A , CM000678.2:g.16187193G>A | GRCh38 |
| NC_000016.9:g.16281050G>A , CM000678.1:g.16281050G>A | GRCh37 |
| NC_000016.8:g.16188551G>A | NCBI36 |
| NG_007558.2:g.41279C>T | |
| NG_007558.3:g.41425C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.1798C>T | ENSP00000483331.2:p.Arg600Cys | |
| ENST00000205557.12:c.1798C>T MANE Select | ENSP00000205557.7:p.Arg600Cys | |
| ENST00000205557.11:c.1798C>T | ENSP00000205557.7:p.Arg600Cys | |
| ENST00000456970.6:c.1798C>T | ENSP00000405002.2:p.Arg600Cys | |
| ENST00000574094.5:n.1894C>T | ||
| ENST00000622290.4:c.1798C>T | ENSP00000483331.1:p.Arg600Cys | |
| NM_001171.5:c.1798C>T | NP_001162.4:p.Arg600Cys | |
| XM_011522479.1:c.1798C>T | XP_011520781.1:p.Arg600Cys | |
| XM_011522480.1:c.1456C>T | XP_011520782.1:p.Arg486Cys | |
| XM_011522481.1:c.1456C>T | XP_011520783.1:p.Arg486Cys | |
| XM_011522482.1:c.1798C>T | XP_011520784.1:p.Arg600Cys | |
| XR_932836.1:n.2033C>T | ||
| XR_932837.1:n.2034C>T | ||
| XR_932838.1:n.2034C>T | ||
| NM_001351800.1:c.1456C>T | NP_001338729.1:p.Arg486Cys | |
| NR_147784.1:n.1835C>T | ||
| XM_011522479.2:c.1798C>T | XP_011520781.1:p.Arg600Cys | |
| XM_011522481.3:c.1456C>T | XP_011520783.1:p.Arg486Cys | |
| XM_011522482.3:c.1798C>T | XP_011520784.1:p.Arg600Cys | |
| XM_017023212.1:c.1798C>T | XP_016878701.1:p.Arg600Cys | |
| XM_017023214.1:c.1798C>T | XP_016878703.1:p.Arg600Cys | |
| XM_024450261.1:c.1834C>T | XP_024306029.1:p.Arg612Cys | |
| XR_932836.2:n.1979C>T | ||
| XR_932837.3:n.1979C>T | ||
| XR_932838.3:n.1979C>T | ||
| NM_001171.6:c.1798C>T MANE Select | NP_001162.5:p.Arg600Cys |