Linked Data
ClinVar Variation Id:
7514
ClinVar RCV Id:
RCV000007944
dbSNP Id:
rs111033588
ExAC:
11:67803760 G / A
gnomAD v2:
11-67803760-G-A
gnomAD v3:
11-68036293-G-A
gnomAD v4:
11-68036293-G-A
PubMed:
PMID:15159508
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036293G>A , CM000673.2:g.68036293G>A | GRCh38 |
| NC_000011.9:g.67803760G>A , CM000673.1:g.67803760G>A | GRCh37 |
| NC_000011.8:g.67560336G>A | NCBI36 |
| NG_007878.1:g.2278G>A , LRG_115:g.2278G>A | |
| NG_017040.1:g.10677G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313468.10:c.413G>A MANE Select | ENSP00000315774.5:p.Arg138His | |
| ENST00000313468.9:c.413G>A | ENSP00000315774.5:p.Arg138His | |
| ENST00000524810.5:c.345G>A | ||
| ENST00000525419.5:c.359G>A | ENSP00000433521.1:p.Arg120His | |
| ENST00000526339.5:c.413G>A | ENSP00000436287.1:p.Arg138His | |
| ENST00000526446.5:c.*468G>A | ENSP00000433645.1:n.*468G>A | |
| ENST00000526542.1:n.364G>A | ||
| ENST00000528492.1:c.-26G>A | ENSP00000432848.1:n.-26G>A | |
| ENST00000531282.1:n.265G>A | ||
| NM_002496.3:c.413G>A | NP_002487.1:p.Arg138His | |
| XM_005274013.1:c.413G>A | XP_005274070.1:p.Arg138His | |
| XM_005274014.1:c.413G>A | XP_005274071.1:p.Arg138His | |
| XM_005274015.1:c.293G>A | XP_005274072.1:p.Arg98His | |
| XM_011545053.1:c.413G>A | XP_011543355.1:p.Arg138His | |
| NM_002496.4:c.413G>A MANE Select | NP_002487.1:p.Arg138His |