Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485159A>G , CM000668.2:g.143485159A>G | GRCh38 |
| NC_000006.11:g.143806296A>G , CM000668.1:g.143806296A>G | GRCh37 |
| NC_000006.10:g.143847989A>G | NCBI36 |
| NG_008459.1:g.39379A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.949A>G MANE Select | ENSP00000356563.4:p.Ser317Gly | |
| ENST00000367591.4:c.949A>G | ENSP00000356563.4:p.Ser317Gly | |
| ENST00000585848.1:n.88A>G | ||
| NM_003630.2:c.949A>G | NP_003621.1:p.Ser317Gly | |
| NM_003630.3:c.949A>G MANE Select | NP_003621.1:p.Ser317Gly |