HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160127689G>C , CM000663.2:g.160127689G>C | GRCh38 |
NC_000001.10:g.160097479G>C , CM000663.1:g.160097479G>C | GRCh37 |
NC_000001.9:g.158364103G>C | NCBI36 |
NG_008014.1:g.16932G>C , LRG_6:g.16932G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361216.8:c.886G>C MANE Select | ENSP00000354490.3:p.Val296Leu | |
ENST00000361216.7:c.886G>C | ENSP00000354490.3:p.Val296Leu | |
ENST00000392233.7:c.886G>C | ENSP00000376066.3:p.Val296Leu | |
ENST00000447527.1:c.18G>C | ||
ENST00000472488.5:n.989G>C | ||
NM_000702.3:c.886G>C | NP_000693.1:p.Val296Leu | |
NM_000702.4:c.886G>C MANE Select | NP_000693.1:p.Val296Leu |