HGVS | Genome Assembly |
---|---|
NC_000007.14:g.129212948G>A , CM000669.2:g.129212948G>A | GRCh38 |
NC_000007.13:g.128852789G>A , CM000669.1:g.128852789G>A | GRCh37 |
NC_000007.12:g.128640025G>A | NCBI36 |
NG_023340.1:g.29077G>A | |
NG_023340.2:g.29077G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249373.8:c.*497G>A MANE Select | ENSP00000249373.3:n.*497G>A | |
ENST00000655644.1:c.*2616G>A | ENSP00000499377.1:n.*2616G>A | |
ENST00000249373.7:c.*497G>A | ENSP00000249373.3:n.*497G>A | |
NM_005631.4:c.*497G>A | NP_005622.1:n.*497G>A | |
XM_011516522.1:c.*497G>A | XP_011514824.1:n.*497G>A | |
XM_024446891.1:c.*497G>A | XP_024302659.1:n.*497G>A | |
NM_005631.5:c.*497G>A MANE Select | NP_005622.1:n.*497G>A |