dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17249833T>G , CM000663.2:g.17249833T>G | GRCh38 |
| NC_000001.10:g.17576328T>G , CM000663.1:g.17576328T>G | GRCh37 |
| NC_000001.9:g.17448915T>G | NCBI36 |
| NG_052788.1:g.5755T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375460.3:c.92+604T>G MANE Select | ENSP00000364609.3:n.92+604T>G | |
| NM_016233.2:c.92+604T>G MANE Select | NP_057317.2:n.92+604T>G | |
| XM_011541572.1:c.92+604T>G | XP_011539874.1:n.92+604T>G | |
| XM_011541572.2:c.92+604T>G | XP_011539874.1:n.92+604T>G |