HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38401302A>C , CM000685.2:g.38401302A>C | GRCh38 |
NC_000023.10:g.38260555A>C , CM000685.1:g.38260555A>C | GRCh37 |
NC_000023.9:g.38145499A>C | NCBI36 |
NG_008471.1:g.53820A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000039007.5:c.414A>C MANE Select | ENSP00000039007.4:p.Val138= | |
ENST00000643344.1:c.*164A>C | ENSP00000496606.1:n.*164A>C | |
ENST00000039007.4:c.414A>C | ENSP00000039007.4:p.Val138= | |
ENST00000465127.1:c.172-264819A>C | ENSP00000417050.1:n.172-264819A>C | |
ENST00000488812.1:n.451A>C | ||
NM_000531.5:c.414A>C | NP_000522.3:p.Val138= | |
XM_017029556.1:c.414A>C | XP_016885045.1:p.Val138= | |
NM_000531.6:c.414A>C MANE Select | NP_000522.3:p.Val138= |