Linked Data
dbSNP Id:
rs376919981
ExAC:
4:3519797 G / A
gnomAD v2:
4-3519797-G-A
gnomAD v3:
4-3518070-G-A
gnomAD v4:
4-3518070-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3518070G>A , CM000666.2:g.3518070G>A | GRCh38 |
| NC_000004.11:g.3519797G>A , CM000666.1:g.3519797G>A | GRCh37 |
| NC_000004.10:g.3489595G>A | NCBI36 |
| NG_033873.1:g.19428C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648517.1:c.715C>T | ENSP00000496947.1:p.Arg239Cys | |
| ENST00000650182.1:c.715C>T MANE Select | ENSP00000497444.1:p.Arg239Cys | |
| ENST00000296325.9:n.678C>T | ||
| ENST00000500728.2:c.715C>T | ENSP00000421922.1:p.Arg239Cys | |
| ENST00000509198.1:n.761C>T | ||
| ENST00000515119.5:c.*492C>T | ENSP00000421648.1:n.*492C>T | |
| NM_002337.3:c.715C>T | NP_002328.1:p.Arg239Cys | |
| NR_110005.1:n.678C>T | ||
| NM_002337.4:c.715C>T MANE Select | NP_002328.1:p.Arg239Cys | |
| XR_002959730.1:n.800C>T | ||
| NR_110005.2:n.678C>T |