HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94338336T>C , CM000672.2:g.94338336T>C | GRCh38 |
NC_000010.10:g.96098093T>C , CM000672.1:g.96098093T>C | GRCh37 |
NC_000010.9:g.96088083T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371361.3:c.2091+272A>G MANE Select | ENSP00000360412.3:n.2091+272A>G | |
NM_022451.10:c.2091+272A>G | NP_071896.8:n.2091+272A>G | |
XR_945799.1:n.2211+272A>G | ||
XM_017016544.1:c.1446+272A>G | XP_016872033.1:n.1446+272A>G | |
XR_001747181.2:n.2223+272A>G | ||
XR_001747182.2:n.2111+272A>G | ||
XR_002957007.1:n.2212+272A>G | ||
NM_022451.11:c.2091+272A>G MANE Select | NP_071896.8:n.2091+272A>G |