HGVS | Genome Assembly |
---|---|
NC_000001.11:g.159712443C>T , CM000663.2:g.159712443C>T | GRCh38 |
NC_000001.10:g.159682233C>T , CM000663.1:g.159682233C>T | GRCh37 |
NC_000001.9:g.157948857C>T | NCBI36 |
NG_013007.1:g.7147G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000255030.9:c.*1082G>A MANE Select | ENSP00000255030.5:n.*1082G>A | |
ENST00000368112.5:c.*374G>A | ENSP00000357093.1:n.*374G>A | |
ENST00000437342.1:c.*374G>A | ENSP00000402788.1:n.*374G>A | |
ENST00000473196.1:n.617G>A | ||
NM_000567.2:c.*1082G>A | NP_000558.2:n.*1082G>A | |
XM_011509207.1:c.*374G>A | XP_011507509.1:n.*374G>A | |
NM_001329057.1:c.*374G>A | NP_001315986.1:n.*374G>A | |
NM_001329058.1:c.*148G>A | NP_001315987.1:n.*148G>A | |
NM_000567.3:c.*1082G>A MANE Select | NP_000558.2:n.*1082G>A | |
NM_001329057.2:c.*374G>A | NP_001315986.1:n.*374G>A | |
NM_001329058.2:c.*148G>A | NP_001315987.1:n.*148G>A | |
NM_001382703.1:c.*1082G>A | NP_001369632.1:n.*1082G>A |