Linked Data
dbSNP Id:
rs772523751
ExAC:
1:15772156 T / G
gnomAD v2:
1-15772156-T-G
gnomAD v4:
1-15445661-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445661T>G , CM000663.2:g.15445661T>G | GRCh38 |
| NC_000001.10:g.15772156T>G , CM000663.1:g.15772156T>G | GRCh37 |
| NC_000001.9:g.15644743T>G | NCBI36 |
| NG_009253.1:g.12219T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.704T>G MANE Select | ENSP00000365116.4:p.Val235Gly | |
| ENST00000375943.6:c.*158T>G | ENSP00000365110.2:n.*158T>G | |
| ENST00000375949.4:c.704T>G | ENSP00000365116.4:p.Val235Gly | |
| ENST00000483406.1:n.468T>G | ||
| NM_007272.2:c.704T>G | NP_009203.2:p.Val235Gly | |
| XM_011540550.1:c.558T>G | XP_011538852.1:p.Arg186= | |
| NM_007272.3:c.704T>G MANE Select | NP_009203.2:p.Val235Gly |