Linked Data
ClinVar Variation Id:
7470
dbSNP Id:
rs137853074
ExAC:
1:160011281 G / A
gnomAD v2:
1-160011281-G-A
gnomAD v3:
1-160041491-G-A
gnomAD v4:
1-160041491-G-A
PubMed:
PMID:19426954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160041491G>A , CM000663.2:g.160041491G>A | GRCh38 |
| NC_000001.10:g.160011281G>A , CM000663.1:g.160011281G>A | GRCh37 |
| NC_000001.9:g.158277905G>A | NCBI36 |
| NG_016411.1:g.33681C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509700.2:c.671+343C>T | ||
| ENST00000636689.1:n.95-2143C>T | ||
| ENST00000637644.1:c.487+555C>T | ENSP00000490282.1:n.487+555C>T | |
| ENST00000638728.1:c.1042C>T | ENSP00000492619.1:p.Arg348Cys | |
| ENST00000638840.1:c.764C>T | ||
| ENST00000638868.1:c.1042C>T | ENSP00000491250.1:p.Arg348Cys | |
| ENST00000639408.1:c.487+555C>T | ENSP00000491635.1:n.487+555C>T | |
| ENST00000640017.1:c.669+343C>T | ENSP00000491337.1:n.669+343C>T | |
| ENST00000640914.1:c.124+343C>T | ||
| ENST00000644903.1:c.1042C>T MANE Select | ENSP00000495557.1:p.Arg348Cys | |
| ENST00000368089.3:c.1042C>T | ENSP00000357068.3:p.Arg348Cys | |
| ENST00000509700.1:n.462+343C>T | ||
| NM_002241.4:c.1042C>T | NP_002232.2:p.Arg348Cys | |
| NM_002241.5:c.1042C>T MANE Select | NP_002232.2:p.Arg348Cys |