HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583611G>A , CM000679.2:g.41583611G>A | GRCh38 |
NC_000017.10:g.39739863G>A , CM000679.1:g.39739863G>A | GRCh37 |
NC_000017.9:g.36993389G>A | NCBI36 |
NG_008624.1:g.8285C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.993C>T MANE Select | ENSP00000167586.6:p.Ile331= | |
ENST00000167586.6:c.993C>T | ENSP00000167586.6:p.Ile331= | |
ENST00000476662.1:n.443C>T | ||
NM_000526.4:c.993C>T | NP_000517.2:p.Ile331= | |
NM_000526.5:c.993C>T MANE Select | NP_000517.3:p.Ile331= |