Linked Data
dbSNP Id:
rs762922862
ExAC:
1:116275595 T / C
gnomAD v2:
1-116275595-T-C
gnomAD v4:
1-115732974-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732974T>C , CM000663.2:g.115732974T>C | GRCh38 |
| NC_000001.10:g.116275595T>C , CM000663.1:g.116275595T>C | GRCh37 |
| NC_000001.9:g.116077118T>C | NCBI36 |
| NG_008802.1:g.40832A>G , LRG_404:g.40832A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.257A>G | ENSP00000518226.1:p.Tyr86Cys | |
| ENST00000261448.6:c.533A>G MANE Select | ENSP00000261448.5:p.Tyr178Cys | |
| ENST00000261448.5:c.533A>G | ENSP00000261448.5:p.Tyr178Cys | |
| NM_001232.3:c.533A>G , LRG_404t1:c.533A>G | NP_001223.2:p.Tyr178Cys | |
| NM_001232.4:c.533A>G MANE Select | NP_001223.2:p.Tyr178Cys |