Linked Data
ClinVar Variation Id:
14238
dbSNP Id:
rs199422220
ExAC:
4:100529984 G / A
gnomAD v2:
4-100529984-G-A
gnomAD v3:
4-99608827-G-A
gnomAD v4:
4-99608827-G-A
COSMIC:
COSM2951462
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99608827G>A , CM000666.2:g.99608827G>A | GRCh38 |
| NC_000004.11:g.100529984G>A , CM000666.1:g.100529984G>A | GRCh37 |
| NC_000004.10:g.100749007G>A | NCBI36 |
| NG_011469.1:g.49745G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265517.10:c.1619G>A MANE Select | ENSP00000265517.5:p.Arg540His | |
| ENST00000457717.6:c.1619G>A | ENSP00000400821.1:p.Arg540His | |
| ENST00000511045.6:c.1370G>A | ENSP00000427679.2:p.Arg457His | |
| ENST00000265517.9:c.1619G>A | ENSP00000265517.5:p.Arg540His | |
| ENST00000457717.5:c.1619G>A | ENSP00000400821.1:p.Arg540His | |
| ENST00000511045.5:c.1700G>A | ENSP00000427679.1:p.Arg567His | |
| ENST00000619629.1:c.*66G>A | ENSP00000482850.1:n.*66G>A | |
| NM_000253.3:c.1619G>A | NP_000244.2:p.Arg540His | |
| NM_001300785.1:c.1700G>A | NP_001287714.1:p.Arg567His | |
| NM_000253.4:c.1619G>A | NP_000244.2:p.Arg540His | |
| NM_001300785.2:c.1370G>A | NP_001287714.2:p.Arg457His | |
| NM_001386140.1:c.1619G>A MANE Select | NP_001373069.1:p.Arg540His |