HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48304056G>A , CM000675.2:g.48304056G>A | GRCh38 |
NC_000013.10:g.48878192G>A , CM000675.1:g.48878192G>A | GRCh37 |
NC_000013.9:g.47776193G>A | NCBI36 |
NG_009009.1:g.5310G>A , LRG_517:g.5310G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.137+7G>A MANE Select | ENSP00000267163.4:n.137+7G>A | |
ENST00000646097.1:c.137+7G>A | ENSP00000496556.1:n.137+7G>A | |
ENST00000650461.1:c.137+7G>A | ENSP00000497193.1:n.137+7G>A | |
ENST00000267163.4:c.137+7G>A | ENSP00000267163.4:n.137+7G>A | |
ENST00000467505.5:c.137+7G>A | ENSP00000434702.1:n.137+7G>A | |
ENST00000525036.1:n.299+7G>A | ||
NM_000321.2:c.137+7G>A , LRG_517t1:c.137+7G>A | NP_000312.2:n.137+7G>A | |
NM_000321.3:c.137+7G>A MANE Select | NP_000312.2:n.137+7G>A |