Linked Data
dbSNP Id:
rs1306842803
gnomAD v2:
5-145719339-G-T
gnomAD v3:
5-146339776-G-T
gnomAD v4:
5-146339776-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339776G>T , CM000667.2:g.146339776G>T | GRCh38 |
| NC_000005.9:g.145719339G>T , CM000667.1:g.145719339G>T | GRCh37 |
| NC_000005.8:g.145699532G>T | NCBI36 |
| NG_011885.1:g.5753G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.349G>T MANE Select | ENSP00000495718.1:p.Gly117Cys | |
| ENST00000230732.4:c.349G>T | ENSP00000230732.4:p.Gly117Cys | |
| NM_002700.2:c.349G>T | NP_002691.1:p.Gly117Cys | |
| NM_002700.3:c.349G>T MANE Select | NP_002691.1:p.Gly117Cys |