Linked Data
ClinVar Variation Id:
13124
ClinVar RCV Id:
RCV000014004
dbSNP Id:
rs121917742
ExAC:
1:204128527 C / T
gnomAD v2:
1-204128527-C-T
gnomAD v4:
1-204159399-C-T
PubMed:
PMID:16116425
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204159399C>T , CM000663.2:g.204159399C>T | GRCh38 |
| NC_000001.10:g.204128527C>T , CM000663.1:g.204128527C>T | GRCh37 |
| NC_000001.9:g.202395150C>T | NCBI36 |
| NG_012122.1:g.11939G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272190.9:c.689G>A MANE Select | ENSP00000272190.8:p.Arg230Lys | |
| ENST00000638118.1:c.575G>A | ENSP00000490307.1:p.Arg192Lys | |
| ENST00000272190.8:c.689G>A | ENSP00000272190.8:p.Arg230Lys | |
| NM_000537.3:c.689G>A | NP_000528.1:p.Arg230Lys | |
| NM_000537.4:c.689G>A MANE Select | NP_000528.1:p.Arg230Lys |