Linked Data
dbSNP Id:
rs1190281290
gnomAD v2:
22-43558906-A-G
gnomAD v3:
22-43162900-A-G
gnomAD v4:
22-43162900-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43162900A>G , CM000684.2:g.43162900A>G | GRCh38 |
| NC_000022.10:g.43558906A>G , CM000684.1:g.43558906A>G | GRCh37 |
| NC_000022.9:g.41888850A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337554.8:c.419A>G MANE Select | ENSP00000338004.3:p.Tyr140Cys | |
| ENST00000329563.8:c.419A>G | ENSP00000328973.4:p.Tyr140Cys | |
| ENST00000337554.7:c.419A>G | ENSP00000338004.3:p.Tyr140Cys | |
| ENST00000396265.4:c.419A>G | ENSP00000379563.4:p.Tyr140Cys | |
| ENST00000583777.5:c.107A>G | ENSP00000463495.1:p.Tyr36Cys | |
| NM_000714.5:c.419A>G | NP_000705.2:p.Tyr140Cys | |
| NM_001256530.1:c.419A>G | NP_001243459.1:p.Tyr140Cys | |
| NM_001256531.1:c.419A>G | NP_001243460.1:p.Tyr140Cys | |
| NR_046308.1:n.328A>G | ||
| NM_000714.6:c.419A>G MANE Select | NP_000705.2:p.Tyr140Cys | |
| NR_046308.2:n.283A>G |