HGVS | Genome Assembly |
---|---|
NC_000005.10:g.150860647C>T , CM000667.2:g.150860647C>T | GRCh38 |
NC_000005.9:g.150240209C>T , CM000667.1:g.150240209C>T | GRCh37 |
NC_000005.8:g.150220402C>T | NCBI36 |
NG_027809.2:g.19125C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000520549.1:c.158+11993C>T | ||
XM_011537641.1:c.531+11993C>T | XP_011535943.1:n.531+11993C>T | |
NM_001346557.1:c.531+11993C>T | NP_001333486.1:n.531+11993C>T | |
NM_001346557.2:c.531+11993C>T | NP_001333486.1:n.531+11993C>T | |
NR_170598.1:n.1646+11993C>T |