HGVS | Genome Assembly |
---|---|
NC_000002.12:g.149569663G>A , CM000664.2:g.149569663G>A | GRCh38 |
NC_000002.11:g.150426177G>A , CM000664.1:g.150426177G>A | GRCh37 |
NC_000002.10:g.150134423G>A | NCBI36 |
NG_009189.1:g.23154C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303319.10:c.*311C>T MANE Select | ENSP00000301920.5:n.*311C>T | |
ENST00000303319.9:c.*311C>T | ENSP00000301920.5:n.*311C>T | |
ENST00000428879.5:c.*311C>T | ENSP00000389060.1:n.*311C>T | |
NM_015702.2:c.*311C>T | NP_056517.1:n.*311C>T | |
NM_015702.3:c.*311C>T MANE Select | NP_056517.1:n.*311C>T |