Linked Data
ClinVar Variation Id:
1971485
ClinVar RCV Id:
RCV002740774
dbSNP Id:
rs370064320
ExAC:
16:1412883 G / T
gnomAD v2:
16-1412883-G-T
gnomAD v4:
16-1362882-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362882G>T , CM000678.2:g.1362882G>T | GRCh38 |
| NC_000016.9:g.1412883G>T , CM000678.1:g.1412883G>T | GRCh37 |
| NC_000016.8:g.1352884G>T | NCBI36 |
| NG_016985.1:g.15984G>T | |
| NG_033129.1:g.56823C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.898G>T | ||
| ENST00000529110.2:c.883G>T | ENSP00000435349.2:p.Gly295Cys | |
| ENST00000529957.6:n.857G>T | ||
| ENST00000683366.1:c.*531G>T | ENSP00000507283.1:n.*531G>T | |
| ENST00000683887.1:c.847G>T | ENSP00000506886.1:p.Gly283Cys | |
| ENST00000684100.1:n.793G>T | ||
| ENST00000684126.1:n.933G>T | ||
| ENST00000684688.1:n.1424G>T | ||
| ENST00000204679.9:c.799G>T MANE Select | ENSP00000204679.4:p.Gly267Cys | |
| ENST00000204679.8:c.799G>T | ENSP00000204679.4:p.Gly267Cys | |
| ENST00000527076.1:n.2022G>T | ||
| ENST00000527168.5:n.966G>T | ||
| ENST00000529957.5:n.898G>T | ||
| NM_032520.4:c.799G>T | NP_115909.1:p.Gly267Cys | |
| XM_017023782.1:c.847G>T | XP_016879271.1:p.Gly283Cys | |
| XM_017023783.1:c.439G>T | XP_016879272.1:p.Gly147Cys | |
| NM_032520.5:c.799G>T MANE Select | NP_115909.1:p.Gly267Cys |