Linked Data
dbSNP Id:
rs907768931
gnomAD v3:
1-173914677-T-C
gnomAD v4:
1-173914677-T-C
COSMIC:
COSM677066
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173914677T>C , CM000663.2:g.173914677T>C | GRCh38 |
| NC_000001.10:g.173883815T>C , CM000663.1:g.173883815T>C | GRCh37 |
| NC_000001.9:g.172150438T>C | NCBI36 |
| NG_012462.1:g.7702A>G , LRG_577:g.7702A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.284A>G MANE Select | ENSP00000356671.3:p.Tyr95Cys | |
| ENST00000367698.3:c.284A>G | ENSP00000356671.3:p.Tyr95Cys | |
| ENST00000494024.1:n.510A>G | ||
| ENST00000617423.4:c.284A>G | ENSP00000478688.1:p.Tyr95Cys | |
| NM_000488.3:c.284A>G , LRG_577t1:c.284A>G | NP_000479.1:p.Tyr95Cys | |
| XM_005245198.2:c.140A>G | XP_005245255.1:p.Tyr47Cys | |
| NM_001365052.1:c.140A>G | NP_001351981.1:p.Tyr47Cys | |
| NM_000488.4:c.284A>G MANE Select | NP_000479.1:p.Tyr95Cys | |
| NM_001365052.2:c.140A>G | NP_001351981.1:p.Tyr47Cys | |
| NM_001386302.1:c.284A>G | NP_001373231.1:p.Tyr95Cys | |
| NM_001386303.1:c.365A>G | NP_001373232.1:p.Tyr122Cys | |
| NM_001386304.1:c.284A>G | NP_001373233.1:p.Tyr95Cys | |
| NM_001386305.1:c.284A>G | NP_001373234.1:p.Tyr95Cys | |
| NM_001386306.1:c.284A>G | NP_001373235.1:p.Tyr95Cys |