HGVS | Genome Assembly |
---|---|
NC_000012.12:g.54515360G>A , CM000674.2:g.54515360G>A | GRCh38 |
NC_000012.11:g.54909144G>A , CM000674.1:g.54909144G>A | GRCh37 |
NC_000012.10:g.53195411G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293373.11:c.942-879G>A MANE Select | ENSP00000293373.6:n.942-879G>A | |
ENST00000293373.10:c.942-879G>A | ENSP00000293373.6:n.942-879G>A | |
ENST00000545638.2:c.792-879G>A | ENSP00000445596.2:n.792-879G>A | |
ENST00000548221.5:c.942-879G>A | ENSP00000447246.1:n.942-879G>A | |
ENST00000552211.5:n.438-879G>A | ||
NM_001184976.1:c.792-879G>A | NP_001171905.1:n.792-879G>A | |
NM_005337.4:c.942-879G>A | NP_005328.2:n.942-879G>A | |
NM_005337.5:c.942-879G>A MANE Select | NP_005328.2:n.942-879G>A | |
NM_001184976.2:c.792-879G>A | NP_001171905.1:n.792-879G>A |