Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.167954939T>C , CM000664.2:g.167954939T>C | GRCh38 |
| NC_000002.11:g.168811449T>C , CM000664.1:g.168811449T>C | GRCh37 |
| NC_000002.10:g.168519695T>C | NCBI36 |
| NG_052783.1:g.297657A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697205.1:c.2132A>G | ENSP00000513185.1:n.2132A>G | |
| ENST00000355999.5:c.*557A>G MANE Select | ENSP00000348278.4:n.*557A>G | |
| ENST00000355999.4:c.*557A>G | ENSP00000348278.4:n.*557A>G | |
| ENST00000487143.5:n.1295A>G | ||
| NM_013233.2:c.*557A>G | NP_037365.2:n.*557A>G | |
| XM_005246465.2:c.*557A>G | XP_005246522.1:n.*557A>G | |
| XM_011510966.1:c.*557A>G | XP_011509268.1:n.*557A>G | |
| XM_011510967.1:c.*557A>G | XP_011509269.1:n.*557A>G | |
| NM_013233.3:c.*557A>G MANE Select | NP_037365.2:n.*557A>G |