HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98578049T>A , CM000671.2:g.98578049T>A | GRCh38 |
NC_000009.11:g.101340331T>A , CM000671.1:g.101340331T>A | GRCh37 |
NC_000009.10:g.100380152T>A | NCBI36 |
NG_016426.1:g.136149A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259455.4:c.345A>T MANE Select | ENSP00000259455.2:p.Lys115Asn | |
ENST00000637410.1:n.123A>T | ||
ENST00000637717.1:c.-40A>T | ENSP00000490789.1:n.-40A>T | |
ENST00000259455.3:c.345A>T | ENSP00000259455.2:p.Lys115Asn | |
ENST00000634227.1:n.119A>T | ||
NM_005458.7:c.345A>T | NP_005449.5:p.Lys115Asn | |
NM_005458.8:c.345A>T MANE Select | NP_005449.5:p.Lys115Asn |