HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98541949G>T , CM000671.2:g.98541949G>T | GRCh38 |
NC_000009.11:g.101304231G>T , CM000671.1:g.101304231G>T | GRCh37 |
NC_000009.10:g.100344052G>T | NCBI36 |
NG_016426.1:g.172249C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.554C>A MANE Select | ENSP00000259455.2:p.Ala185Asp | |
ENST00000637410.1:n.332C>A | ||
ENST00000637717.1:c.170C>A | ENSP00000490789.1:p.Ala57Asp | |
ENST00000259455.3:c.554C>A | ENSP00000259455.2:p.Ala185Asp | |
ENST00000477471.1:n.341C>A | ||
ENST00000634227.1:n.328C>A | ||
NM_005458.7:c.554C>A | NP_005449.5:p.Ala185Asp | |
XM_017015331.2:c.260C>A | XP_016870820.1:p.Ala87Asp | |
NM_005458.8:c.554C>A MANE Select | NP_005449.5:p.Ala185Asp |