Linked Data
dbSNP Id:
rs751386712
ExAC:
12:58159839 A / G
gnomAD v2:
12-58159839-A-G
gnomAD v3:
12-57766056-A-G
gnomAD v4:
12-57766056-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766056A>G , CM000674.2:g.57766056A>G | GRCh38 |
| NC_000012.11:g.58159839A>G , CM000674.1:g.58159839A>G | GRCh37 |
| NC_000012.10:g.56446106A>G | NCBI36 |
| NG_007076.1:g.6138T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.249T>C | ||
| ENST00000713544.1:c.337T>C | ENSP00000518840.1:p.Trp113Arg | |
| ENST00000713545.1:c.337T>C | ENSP00000518841.1:p.Trp113Arg | |
| ENST00000228606.9:c.337T>C MANE Select | ENSP00000228606.4:p.Trp113Arg | |
| ENST00000228606.8:c.337T>C | ENSP00000228606.4:p.Trp113Arg | |
| ENST00000546496.1:n.165T>C | ||
| ENST00000546609.1:c.249T>C | ||
| ENST00000547344.5:n.391T>C | ||
| ENST00000552186.1:n.456T>C | ||
| NM_000785.3:c.337T>C | NP_000776.1:p.Trp113Arg | |
| NM_000785.4:c.337T>C MANE Select | NP_000776.1:p.Trp113Arg |