Linked Data
dbSNP Id:
rs762953709
ExAC:
11:17574915 A / G
gnomAD v2:
11-17574915-A-G
gnomAD v4:
11-17553368-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553368A>G , CM000673.2:g.17553368A>G | GRCh38 |
| NC_000011.9:g.17574915A>G , CM000673.1:g.17574915A>G | GRCh37 |
| NC_000011.8:g.17531491A>G | NCBI36 |
| NG_033191.1:g.10996A>G | |
| NG_033191.2:g.10996A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.425A>G | ENSP00000382323.2:p.Tyr142Cys | |
| ENST00000399397.6:c.389A>G MANE Select | ENSP00000382329.2:p.Tyr130Cys | |
| ENST00000399391.6:c.425A>G | ENSP00000382323.2:p.Tyr142Cys | |
| ENST00000399397.5:c.389A>G | ENSP00000382329.2:p.Tyr130Cys | |
| ENST00000428619.1:c.206A>G | ENSP00000399057.2:p.Tyr69Cys | |
| ENST00000498332.5:n.295A>G | ||
| NM_001277269.1:c.425A>G | NP_001264198.1:p.Tyr142Cys | |
| NM_001292063.1:c.389A>G | NP_001278992.1:p.Tyr130Cys | |
| NM_001277269.2:c.425A>G | NP_001264198.1:p.Tyr142Cys | |
| NM_001292063.2:c.389A>G MANE Select | NP_001278992.1:p.Tyr130Cys |