HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38369832A>C , CM000685.2:g.38369832A>C | GRCh38 |
NC_000023.10:g.38229085A>C , CM000685.1:g.38229085A>C | GRCh37 |
NC_000023.9:g.38114029A>C | NCBI36 |
NG_008471.1:g.22350A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000039007.5:c.253A>C MANE Select | ENSP00000039007.4:p.Ile85Leu | |
ENST00000643344.1:c.253A>C | ENSP00000496606.1:p.Ile85Leu | |
ENST00000039007.4:c.253A>C | ENSP00000039007.4:p.Ile85Leu | |
ENST00000465127.1:c.172-296289A>C | ENSP00000417050.1:n.172-296289A>C | |
ENST00000488812.1:n.345A>C | ||
NM_000531.5:c.253A>C | NP_000522.3:p.Ile85Leu | |
XM_017029556.1:c.253A>C | XP_016885045.1:p.Ile85Leu | |
NM_000531.6:c.253A>C MANE Select | NP_000522.3:p.Ile85Leu |