HGVS | Genome Assembly |
---|---|
NC_000019.10:g.33300397T>A , CM000681.2:g.33300397T>A | GRCh38 |
NC_000019.9:g.33791303T>A , CM000681.1:g.33791303T>A | GRCh37 |
NC_000019.8:g.38483143T>A | NCBI36 |
NG_012022.1:g.7128A>T , LRG_456:g.7128A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000498907.3:c.*941A>T MANE Select | ENSP00000427514.1:n.*941A>T | |
ENST00000498907.2:c.*941A>T | ENSP00000427514.1:n.*941A>T | |
NM_001285829.1:c.*941A>T | NP_001272758.1:n.*941A>T | |
NM_001287424.1:c.*941A>T | NP_001274353.1:n.*941A>T | |
NM_001287435.1:c.*941A>T | NP_001274364.1:n.*941A>T | |
NM_004364.4:c.*941A>T | NP_004355.2:n.*941A>T | |
NM_001287424.2:c.*941A>T | NP_001274353.1:n.*941A>T | |
NM_004364.5:c.*941A>T MANE Select | NP_004355.2:n.*941A>T | |
NM_001285829.2:c.*941A>T | NP_001272758.1:n.*941A>T | |
NM_001287435.2:c.*941A>T | NP_001274364.1:n.*941A>T |