HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40867070T>A , CM000679.2:g.40867070T>A | GRCh38 |
NC_000017.10:g.39023322T>A , CM000679.1:g.39023322T>A | GRCh37 |
NC_000017.9:g.36276848T>A | NCBI36 |
NG_008077.1:g.5141A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251643.5:c.117A>T MANE Select | ENSP00000251643.4:p.Gly39= | |
ENST00000647902.1:c.117A>T | ENSP00000497770.1:p.Gly39= | |
ENST00000251643.4:c.117A>T | ENSP00000251643.4:p.Gly39= | |
NM_000223.3:c.117A>T | NP_000214.1:p.Gly39= | |
XR_934754.1:n.1500+16210T>A | ||
XR_934754.2:n.2008+16210T>A | ||
NM_000223.4:c.117A>T MANE Select | NP_000214.1:p.Gly39= |