HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48304060A>C , CM000675.2:g.48304060A>C | GRCh38 |
NC_000013.10:g.48878196A>C , CM000675.1:g.48878196A>C | GRCh37 |
NC_000013.9:g.47776197A>C | NCBI36 |
NG_009009.1:g.5314A>C , LRG_517:g.5314A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.137+11A>C MANE Select | ENSP00000267163.4:n.137+11A>C | |
ENST00000646097.1:c.137+11A>C | ENSP00000496556.1:n.137+11A>C | |
ENST00000650461.1:c.137+11A>C | ENSP00000497193.1:n.137+11A>C | |
ENST00000267163.4:c.137+11A>C | ENSP00000267163.4:n.137+11A>C | |
ENST00000467505.5:c.137+11A>C | ENSP00000434702.1:n.137+11A>C | |
ENST00000525036.1:n.299+11A>C | ||
NM_000321.2:c.137+11A>C , LRG_517t1:c.137+11A>C | NP_000312.2:n.137+11A>C | |
NM_000321.3:c.137+11A>C MANE Select | NP_000312.2:n.137+11A>C |