HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38408917A>G , CM000685.2:g.38408917A>G | GRCh38 |
NC_000023.10:g.38268170A>G , CM000685.1:g.38268170A>G | GRCh37 |
NC_000023.9:g.38153114A>G | NCBI36 |
NG_008471.1:g.61435A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.759A>G MANE Select | ENSP00000039007.4:p.Ala253= | |
ENST00000643344.1:c.*509A>G | ENSP00000496606.1:n.*509A>G | |
ENST00000039007.4:c.759A>G | ENSP00000039007.4:p.Ala253= | |
ENST00000465127.1:c.172-257204A>G | ENSP00000417050.1:n.172-257204A>G | |
NM_000531.5:c.759A>G | NP_000522.3:p.Ala253= | |
XM_017029556.1:c.759A>G | XP_016885045.1:p.Ala253= | |
NM_000531.6:c.759A>G MANE Select | NP_000522.3:p.Ala253= |