HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6668961C>T , CM000681.2:g.6668961C>T | GRCh38 |
NC_000019.9:g.6668972C>T , CM000681.1:g.6668972C>T | GRCh37 |
NC_000019.8:g.6619972C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000675206.1:c.219+890G>A MANE Select | ENSP00000502837.1:n.219+890G>A | |
ENST00000245912.7:c.111+998G>A | ENSP00000245912.3:n.111+998G>A | |
ENST00000599359.1:c.219+890G>A | ENSP00000469049.1:n.219+890G>A | |
NM_003807.3:c.219+890G>A | NP_003798.2:n.219+890G>A | |
NM_172014.2:c.111+998G>A | NP_742011.2:n.111+998G>A | |
XM_005259670.2:c.111+998G>A | XP_005259727.1:n.111+998G>A | |
XM_011528398.1:c.253+856G>A | XP_011526700.1:n.253+856G>A | |
XR_936212.1:n.733+890G>A | ||
NM_003807.4:c.219+890G>A | NP_003798.2:n.219+890G>A | |
NM_172014.3:c.111+998G>A | NP_742011.2:n.111+998G>A | |
XM_017027417.1:c.219+890G>A | XP_016882906.1:n.219+890G>A | |
XM_017027418.1:c.219+890G>A | XP_016882907.1:n.219+890G>A | |
XR_001753777.1:n.745+890G>A | ||
XR_936212.2:n.745+890G>A | ||
NM_001376887.1:c.219+890G>A MANE Select | NP_001363816.1:n.219+890G>A | |
NM_003807.5:c.219+890G>A | NP_003798.2:n.219+890G>A |