Linked Data
dbSNP Id:
rs768388648
ExAC:
11:128709228 T / C
gnomAD v2:
11-128709228-T-C
gnomAD v3:
11-128839333-T-C
gnomAD v4:
11-128839333-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839333T>C , CM000673.2:g.128839333T>C | GRCh38 |
| NC_000011.9:g.128709228T>C , CM000673.1:g.128709228T>C | GRCh37 |
| NC_000011.8:g.128214438T>C | NCBI36 |
| NG_009379.1:g.33041A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.911A>G MANE Select | ENSP00000376434.1:p.Tyr304Cys | |
| ENST00000324036.7:c.911A>G | ENSP00000316233.3:p.Tyr304Cys | |
| ENST00000392664.2:c.968A>G | ENSP00000376432.2:p.Tyr323Cys | |
| ENST00000392665.6:c.911A>G | ENSP00000376433.2:p.Tyr304Cys | |
| ENST00000392666.5:c.911A>G | ENSP00000376434.1:p.Tyr304Cys | |
| ENST00000440599.6:c.911A>G | ENSP00000406320.2:p.Tyr304Cys | |
| NM_000220.4:c.968A>G | NP_000211.1:p.Tyr323Cys | |
| NM_153764.2:c.911A>G | NP_722448.1:p.Tyr304Cys | |
| NM_153765.2:c.962A>G | NP_722449.3:p.Tyr321Cys | |
| NM_153766.2:c.911A>G | NP_722450.1:p.Tyr304Cys | |
| NM_153767.3:c.911A>G | NP_722451.1:p.Tyr304Cys | |
| NM_000220.6:c.968A>G | NP_000211.1:p.Tyr323Cys | |
| NM_153764.3:c.911A>G | NP_722448.1:p.Tyr304Cys | |
| NM_153765.3:c.962A>G | NP_722449.3:p.Tyr321Cys | |
| NM_153766.3:c.911A>G MANE Select | NP_722450.1:p.Tyr304Cys | |
| NM_153767.4:c.911A>G | NP_722451.1:p.Tyr304Cys |