Linked Data
ClinVar Variation Id:
5748
ClinVar RCV Id:
RCV000006104
dbSNP Id:
rs137853135
ExAC:
9:131118049 G / A
gnomAD v2:
9-131118049-G-A
gnomAD v3:
9-128355770-G-A
gnomAD v4:
9-128355770-G-A
PubMed:
PMID:19631310
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128355770G>A , CM000671.2:g.128355770G>A | GRCh38 |
| NC_000009.11:g.131118049G>A , CM000671.1:g.131118049G>A | GRCh37 |
| NC_000009.10:g.130157870G>A | NCBI36 |
| NG_017057.1:g.20211G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300456.5:c.1748G>A MANE Select | ENSP00000300456.3:p.Arg583His | |
| ENST00000300456.4:c.1748G>A | ENSP00000300456.3:p.Arg583His | |
| ENST00000372870.5:c.530G>A | ENSP00000361961.1:p.Arg177His | |
| NM_005094.3:c.1748G>A | NP_005085.2:p.Arg583His | |
| XM_017014222.1:c.1748G>A | XP_016869711.1:p.Arg583His | |
| XM_024447391.1:c.1748G>A | XP_024303159.1:p.Arg583His | |
| NM_005094.4:c.1748G>A MANE Select | NP_005085.2:p.Arg583His |