Identifiers and link-outs to other resources
ClinVar Variation Id:
10438
ClinVar RCV Id:
RCV000011183
dbSNP Id:
rs104894819
User contributed link-outs
Pubmed:
PMID:7477983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71223901A>G , CM000685.2:g.71223901A>G | GRCh38 |
| NC_000023.10:g.70443751A>G , CM000685.1:g.70443751A>G | GRCh37 |
| NC_000023.9:g.70360476A>G | NCBI36 |
| NG_008357.1:g.13690A>G , LRG_245:g.13690A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000166.5:c.194A>G VV | NP_000157.1:p.Tyr65Cys | |
| NM_001097642.2:c.194A>G , LRG_245t1:c.194A>G | NP_001091111.1:p.Tyr65Cys | |
| XM_011530907.1:c.194A>G | XP_011529209.1:p.Tyr65Cys | |
| XM_011530907.2:c.194A>G | ||
| ENST00000361726.6:c.194A>G | ENSP00000354900.6:p.Tyr65Cys | |
| ENST00000374022.3:c.194A>G | ENSP00000363134.3:p.Tyr65Cys | |
| ENST00000374029.1:c.194A>G | ENSP00000363141.1:p.Tyr65Cys | |
| ENST00000447581.1:c.194A>G | ENSP00000407223.1:p.Tyr65Cys |