Linked Data
dbSNP Id:
rs374011051
ExAC:
4:3519911 C / T
gnomAD v2:
4-3519911-C-T
gnomAD v3:
4-3518184-C-T
gnomAD v4:
4-3518184-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3518184C>T , CM000666.2:g.3518184C>T | GRCh38 |
| NC_000004.11:g.3519911C>T , CM000666.1:g.3519911C>T | GRCh37 |
| NC_000004.10:g.3489709C>T | NCBI36 |
| NG_033873.1:g.19314G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648517.1:c.601G>A | ENSP00000496947.1:p.Glu201Lys | |
| ENST00000650182.1:c.601G>A MANE Select | ENSP00000497444.1:p.Glu201Lys | |
| ENST00000296325.9:n.564G>A | ||
| ENST00000500728.2:c.601G>A | ENSP00000421922.1:p.Glu201Lys | |
| ENST00000509198.1:n.647G>A | ||
| ENST00000515119.5:c.*378G>A | ENSP00000421648.1:n.*378G>A | |
| NM_002337.3:c.601G>A | NP_002328.1:p.Glu201Lys | |
| NR_110005.1:n.564G>A | ||
| NM_002337.4:c.601G>A MANE Select | NP_002328.1:p.Glu201Lys | |
| XR_002959730.1:n.686G>A | ||
| NR_110005.2:n.564G>A |