HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202464829C>A , CM000664.2:g.202464829C>A | GRCh38 |
NC_000002.11:g.203329552C>A , CM000664.1:g.203329552C>A | GRCh37 |
NC_000002.10:g.203037797C>A | NCBI36 |
NG_009363.1:g.93503C>A , LRG_712:g.93503C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.97C>A MANE Select | ENSP00000363708.4:p.Leu33Ile | |
ENST00000638587.1:c.22C>A | ENSP00000491062.1:p.Leu8Ile | |
ENST00000374574.2:c.97C>A | ENSP00000363702.2:p.Leu33Ile | |
ENST00000374580.8:c.97C>A | ENSP00000363708.4:p.Leu33Ile | |
ENST00000479069.1:n.4C>A | ||
NM_001204.6:c.97C>A , LRG_712t1:c.97C>A | NP_001195.2:p.Leu33Ile | |
XM_011511687.1:c.97C>A | XP_011509989.1:p.Leu33Ile | |
XM_011511688.1:c.97C>A | XP_011509990.1:p.Leu33Ile | |
NM_001204.7:c.97C>A MANE Select | NP_001195.2:p.Leu33Ile |