HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48304168G>T , CM000675.2:g.48304168G>T | GRCh38 |
NC_000013.10:g.48878304G>T , CM000675.1:g.48878304G>T | GRCh37 |
NC_000013.9:g.47776305G>T | NCBI36 |
NG_009009.1:g.5422G>T , LRG_517:g.5422G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.137+119G>T MANE Select | ENSP00000267163.4:n.137+119G>T | |
ENST00000646097.1:c.137+119G>T | ENSP00000496556.1:n.137+119G>T | |
ENST00000650461.1:c.137+119G>T | ENSP00000497193.1:n.137+119G>T | |
ENST00000267163.4:c.137+119G>T | ENSP00000267163.4:n.137+119G>T | |
ENST00000467505.5:c.137+119G>T | ENSP00000434702.1:n.137+119G>T | |
ENST00000525036.1:n.299+119G>T | ||
NM_000321.2:c.137+119G>T , LRG_517t1:c.137+119G>T | NP_000312.2:n.137+119G>T | |
NM_000321.3:c.137+119G>T MANE Select | NP_000312.2:n.137+119G>T |