HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48381342A>C , CM000675.2:g.48381342A>C | GRCh38 |
NC_000013.10:g.48955478A>C , CM000675.1:g.48955478A>C | GRCh37 |
NC_000013.9:g.47853479A>C | NCBI36 |
NG_009009.1:g.82596A>C , LRG_517:g.82596A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.1594A>C MANE Select | ENSP00000267163.4:p.Ile532Leu | |
ENST00000643064.1:c.93A>C | ||
ENST00000650461.1:c.1594A>C | ENSP00000497193.1:p.Ile532Leu | |
ENST00000267163.4:c.1594A>C | ENSP00000267163.4:p.Ile532Leu | |
NM_000321.2:c.1594A>C , LRG_517t1:c.1594A>C | NP_000312.2:p.Ile532Leu | |
XM_011535171.1:c.1333A>C | XP_011533473.1:p.Ile445Leu | |
XM_011535171.2:c.1333A>C | XP_011533473.1:p.Ile445Leu | |
NM_000321.3:c.1594A>C MANE Select | NP_000312.2:p.Ile532Leu |