HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3926035G>T , CM000681.2:g.3926035G>T | GRCh38 |
NC_000019.9:g.3926033G>T , CM000681.1:g.3926033G>T | GRCh37 |
NC_000019.8:g.3877033G>T | NCBI36 |
NG_012638.1:g.50416G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450849.7:c.*1443G>T MANE Select | ENSP00000390941.1:n.*1443G>T | |
ENST00000450849.6:c.*1443G>T | ENSP00000390941.1:n.*1443G>T | |
ENST00000600960.1:c.2623G>T | ENSP00000470842.1:n.2623G>T | |
ENST00000601323.1:n.440-223G>T | ||
NM_033064.4:c.*1443G>T | NP_149053.1:n.*1443G>T | |
NM_033064.5:c.*1443G>T MANE Select | NP_149053.1:n.*1443G>T |