HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15180559G>A , CM000681.2:g.15180559G>A | GRCh38 |
NC_000019.9:g.15291370G>A , CM000681.1:g.15291370G>A | GRCh37 |
NC_000019.8:g.15152370G>A | NCBI36 |
NG_009819.1:g.25423C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263388.7:c.3142+122C>T MANE Select | ENSP00000263388.1:n.3142+122C>T | |
ENST00000263388.6:c.3142+122C>T | ENSP00000263388.1:n.3142+122C>T | |
ENST00000601011.1:c.2983+122C>T | ENSP00000473138.1:n.2983+122C>T | |
NM_000435.2:c.3142+122C>T | NP_000426.2:n.3142+122C>T | |
XM_005259924.3:c.2986+122C>T | XP_005259981.1:n.2986+122C>T | |
XM_005259924.4:c.2986+122C>T | XP_005259981.1:n.2986+122C>T | |
NM_000435.3:c.3142+122C>T MANE Select | NP_000426.2:n.3142+122C>T |