HGVS | Genome Assembly |
---|---|
NC_000008.11:g.58497880C>T , CM000670.2:g.58497880C>T | GRCh38 |
NC_000008.10:g.59410439C>T , CM000670.1:g.59410439C>T | GRCh37 |
NC_000008.9:g.59572993C>T | NCBI36 |
NG_007969.1:g.7283G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301645.4:c.321+349G>A MANE Select | ENSP00000301645.3:n.321+349G>A | |
ENST00000301645.3:c.321+349G>A | ENSP00000301645.3:n.321+349G>A | |
NM_000780.3:c.321+349G>A | NP_000771.2:n.321+349G>A | |
XM_011517476.1:c.321+349G>A | XP_011515778.1:n.321+349G>A | |
NM_000780.4:c.321+349G>A MANE Select | NP_000771.2:n.321+349G>A |