HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31531163T>A , CM000680.2:g.31531163T>A | GRCh38 |
NC_000018.9:g.29111126T>A , CM000680.1:g.29111126T>A | GRCh37 |
NC_000018.8:g.27365124T>A | NCBI36 |
NG_007072.3:g.37922T>A , LRG_397:g.37922T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683614.2:n.1022T>A | ||
ENST00000683614.1:c.1022T>A | ||
ENST00000261590.13:c.1191T>A MANE Select | ENSP00000261590.8:p.Val397= | |
ENST00000261590.12:c.1191T>A | ENSP00000261590.8:p.Val397= | |
NM_001943.3:c.1191T>A , LRG_397t1:c.1191T>A | NP_001934.2:p.Val397= | |
NM_001943.4:c.1191T>A | NP_001934.2:p.Val397= | |
XM_024451095.1:c.657T>A | XP_024306863.1:p.Val219= | |
NM_001943.5:c.1191T>A MANE Select | NP_001934.2:p.Val397= |