HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88719677T>G , CM000678.2:g.88719677T>G | GRCh38 |
NC_000016.9:g.88786085T>G , CM000678.1:g.88786085T>G | GRCh37 |
NC_000016.8:g.87313586T>G | NCBI36 |
NG_042229.1:g.70544A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301015.14:c.6368A>C MANE Select | ENSP00000301015.9:p.Asp2123Ala | |
ENST00000466823.3:c.394A>C | ||
ENST00000301015.13:c.6368A>C | ENSP00000301015.9:p.Asp2123Ala | |
ENST00000419505.5:c.134A>C | ENSP00000406358.1:p.Asp45Ala | |
ENST00000466823.2:c.394A>C | ||
ENST00000495568.7:n.609A>C | ||
ENST00000497793.2:n.523A>C | ||
NM_001142864.2:c.6368A>C | NP_001136336.2:p.Asp2123Ala | |
NM_001142864.3:c.6368A>C | NP_001136336.2:p.Asp2123Ala | |
NM_001142864.4:c.6368A>C MANE Select | NP_001136336.2:p.Asp2123Ala |