HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38403651A>G , CM000685.2:g.38403651A>G | GRCh38 |
NC_000023.10:g.38262904A>G , CM000685.1:g.38262904A>G | GRCh37 |
NC_000023.9:g.38147848A>G | NCBI36 |
NG_008471.1:g.56169A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000039007.5:c.574A>G MANE Select | ENSP00000039007.4:p.Ser192Gly | |
ENST00000643344.1:c.*324A>G | ENSP00000496606.1:n.*324A>G | |
ENST00000039007.4:c.574A>G | ENSP00000039007.4:p.Ser192Gly | |
ENST00000465127.1:c.172-262470A>G | ENSP00000417050.1:n.172-262470A>G | |
ENST00000488812.1:n.611A>G | ||
NM_000531.5:c.574A>G | NP_000522.3:p.Ser192Gly | |
XM_017029556.1:c.574A>G | XP_016885045.1:p.Ser192Gly | |
NM_000531.6:c.574A>G MANE Select | NP_000522.3:p.Ser192Gly |