HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31524561T>A , CM000680.2:g.31524561T>A | GRCh38 |
NC_000018.9:g.29104524T>A , CM000680.1:g.29104524T>A | GRCh37 |
NC_000018.8:g.27358522T>A | NCBI36 |
NG_007072.3:g.31320T>A , LRG_397:g.31320T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682087.2:n.635T>A | ||
ENST00000683614.2:n.635T>A | ||
ENST00000682087.1:c.635T>A | ||
ENST00000683614.1:c.635T>A | ||
ENST00000261590.13:c.804T>A MANE Select | ENSP00000261590.8:p.Asn268Lys | |
ENST00000261590.12:c.804T>A | ENSP00000261590.8:p.Asn268Lys | |
NM_001943.3:c.804T>A , LRG_397t1:c.804T>A | NP_001934.2:p.Asn268Lys | |
NM_001943.4:c.804T>A | NP_001934.2:p.Asn268Lys | |
XM_024451095.1:c.270T>A | XP_024306863.1:p.Asn90Lys | |
NM_001943.5:c.804T>A MANE Select | NP_001934.2:p.Asn268Lys |