HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7522791C>T , CM000681.2:g.7522791C>T | GRCh38 |
NC_000019.9:g.7587677C>T , CM000681.1:g.7587677C>T | GRCh37 |
NC_000019.8:g.7493677C>T | NCBI36 |
NG_015806.1:g.5182C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.31+10C>T MANE Select | ENSP00000264079.5:n.31+10C>T | |
ENST00000264079.10:c.31+10C>T | ENSP00000264079.5:n.31+10C>T | |
ENST00000394321.9:n.111+10C>T | ||
ENST00000596390.1:n.147+10C>T | ||
ENST00000601003.1:c.31+10C>T | ENSP00000469074.1:n.31+10C>T | |
NM_020533.2:c.31+10C>T | NP_065394.1:n.31+10C>T | |
XR_936293.1:n.926+51G>A | ||
XR_936294.1:n.926+51G>A | ||
XR_936295.1:n.570+51G>A | ||
XR_936293.2:n.952+51G>A | ||
XR_936294.2:n.952+51G>A | ||
NM_020533.3:c.31+10C>T MANE Select | NP_065394.1:n.31+10C>T |