Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339464G>A , CM000669.2:g.17339464G>A | GRCh38 |
| NC_000007.13:g.17379088G>A , CM000669.1:g.17379088G>A | GRCh37 |
| NC_000007.12:g.17345613G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1639G>A MANE Select | ENSP00000242057.4:p.Gly547Ser | |
| ENST00000637807.1:c.1609G>A | ENSP00000490530.1:p.Gly537Ser | |
| ENST00000642825.1:c.1594G>A | ENSP00000495987.1:p.Gly532Ser | |
| ENST00000242057.8:c.1639G>A | ENSP00000242057.4:p.Gly547Ser | |
| ENST00000463496.1:c.1639G>A | ENSP00000436466.1:p.Gly547Ser | |
| ENST00000492120.1:n.621G>A | ||
| NM_001621.4:c.1639G>A | NP_001612.1:p.Gly547Ser | |
| NM_001621.5:c.1639G>A MANE Select | NP_001612.1:p.Gly547Ser |