HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15184216G>T , CM000681.2:g.15184216G>T | GRCh38 |
NC_000019.9:g.15295027G>T , CM000681.1:g.15295027G>T | GRCh37 |
NC_000019.8:g.15156027G>T | NCBI36 |
NG_009819.1:g.21766C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263388.7:c.2566+79C>A MANE Select | ENSP00000263388.1:n.2566+79C>A | |
ENST00000263388.6:c.2566+79C>A | ENSP00000263388.1:n.2566+79C>A | |
ENST00000601011.1:c.2407+690C>A | ENSP00000473138.1:n.2407+690C>A | |
NM_000435.2:c.2566+79C>A | NP_000426.2:n.2566+79C>A | |
XM_005259924.3:c.2410+690C>A | XP_005259981.1:n.2410+690C>A | |
XM_005259924.4:c.2410+690C>A | XP_005259981.1:n.2410+690C>A | |
NM_000435.3:c.2566+79C>A MANE Select | NP_000426.2:n.2566+79C>A |