HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186535189G>A , CM000666.2:g.186535189G>A | GRCh38 |
NC_000004.11:g.187456343G>A , CM000666.1:g.187456343G>A | GRCh37 |
NC_000004.10:g.187693337G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703170.1:c.185-632C>T | ENSP00000515216.1:n.185-632C>T | |
ENST00000307161.5:c.185-632C>T MANE Select | ENSP00000302811.5:n.185-632C>T | |
ENST00000509111.2:c.147+19993C>T | ||
NM_005958.3:c.185-632C>T | NP_005949.1:n.185-632C>T | |
XM_011532002.1:c.-71-632C>T | XP_011530304.1:n.-71-632C>T | |
XR_939589.1:n.1982-10455G>A | ||
XR_939590.1:n.162-10455G>A | ||
NM_005958.4:c.185-632C>T MANE Select | NP_005949.1:n.185-632C>T | |
XM_011532002.3:c.-71-632C>T | XP_011530304.1:n.-71-632C>T | |
XR_939589.2:n.1982-10455G>A | ||
XR_939590.2:n.162-10455G>A |