HGVS | Genome Assembly |
---|---|
NC_000001.11:g.172664257G>T , CM000663.2:g.172664257G>T | GRCh38 |
NC_000001.10:g.172633397G>T , CM000663.1:g.172633397G>T | GRCh37 |
NC_000001.9:g.170900020G>T | NCBI36 |
NG_007269.1:g.10213G>T , LRG_58:g.10213G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367721.3:c.395-77G>T MANE Select | ENSP00000356694.2:n.395-77G>T | |
ENST00000340030.4:c.349-77G>T | ENSP00000344739.3:n.349-77G>T | |
ENST00000367721.2:c.395-77G>T | ENSP00000356694.2:n.395-77G>T | |
NM_000639.2:c.395-77G>T | NP_000630.1:n.395-77G>T | |
NM_001302746.1:c.349-77G>T | NP_001289675.1:n.349-77G>T | |
NM_000639.3:c.395-77G>T MANE Select | NP_000630.1:n.395-77G>T | |
NM_001302746.2:c.349-77G>T | NP_001289675.1:n.349-77G>T |