Linked Data
ClinVar Variation Id:
1408944
ClinVar RCV Id:
RCV001909631
dbSNP Id:
rs1573214341
gnomAD v4:
2-47161845-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47161845T>C , CM000664.2:g.47161845T>C | GRCh38 |
| NC_000002.11:g.47388984T>C , CM000664.1:g.47388984T>C | GRCh37 |
| NC_000002.10:g.47242488T>C | NCBI36 |
| NG_042065.1:g.20092A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272298.12:c.299A>G MANE Select | ENSP00000272298.7:p.Tyr100Cys | |
| ENST00000456319.6:c.191A>G | ENSP00000411440.2:p.Tyr64Cys | |
| ENST00000652974.1:c.*283A>G | ENSP00000499369.1:n.*283A>G | |
| ENST00000655450.1:c.191A>G | ENSP00000499266.1:p.Tyr64Cys | |
| ENST00000655728.1:c.191A>G | ENSP00000499656.1:p.Tyr64Cys | |
| ENST00000656538.1:c.191A>G | ENSP00000499357.1:p.Tyr64Cys | |
| ENST00000668667.1:c.191A>G | ENSP00000499706.1:p.Tyr64Cys | |
| ENST00000670593.1:n.1204A>G | ||
| ENST00000272298.11:c.299A>G | ENSP00000272298.7:p.Tyr100Cys | |
| ENST00000409563.5:c.440A>G | ENSP00000387065.1:p.Tyr147Cys | |
| ENST00000422269.1:c.103-8829A>G | ||
| ENST00000432899.5:c.192A>G | ENSP00000406112.1:p.Leu64= | |
| ENST00000456319.5:c.413A>G | ENSP00000411440.1:p.Tyr138Cys | |
| ENST00000460218.5:n.3739A>G | ||
| ENST00000482532.5:n.1566A>G | ||
| ENST00000484408.5:n.560A>G | ||
| ENST00000628793.2:c.166-65A>G | ENSP00000486952.1:n.166-65A>G | |
| NM_001305624.1:c.443A>G | NP_001292553.1:p.Tyr148Cys | |
| NM_001305625.1:c.191A>G | NP_001292554.1:p.Tyr64Cys | |
| NM_001305626.1:c.191A>G | NP_001292555.1:p.Tyr64Cys | |
| NM_001743.4:c.299A>G | NP_001734.1:p.Tyr100Cys | |
| NM_001743.5:c.299A>G | NP_001734.1:p.Tyr100Cys | |
| NM_001743.6:c.299A>G MANE Select | NP_001734.1:p.Tyr100Cys | |
| NM_001305625.2:c.191A>G | NP_001292554.1:p.Tyr64Cys |