HGVS | Genome Assembly |
---|---|
NC_000010.11:g.129467292A>C , CM000672.2:g.129467292A>C | GRCh38 |
NC_000010.10:g.131265556A>C , CM000672.1:g.131265556A>C | GRCh37 |
NC_000010.9:g.131155546A>C | NCBI36 |
NG_052673.1:g.5109A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306010.8:c.77A>C | ENSP00000302111.7:p.Asp26Ala | |
ENST00000651593.1:c.-17A>C MANE Select | ENSP00000498729.1:n.-17A>C | |
ENST00000306010.7:c.77A>C | ENSP00000302111.7:p.Asp26Ala | |
ENST00000482547.1:n.31A>C | ||
ENST00000482653.1:n.64A>C | ||
NM_002412.3:c.77A>C | NP_002403.2:p.Asp26Ala | |
NM_002412.4:c.77A>C | NP_002403.2:p.Asp26Ala | |
XM_005252682.2:c.-162A>C | XP_005252739.1:n.-162A>C | |
NM_002412.5:c.-17A>C MANE Select | NP_002403.3:n.-17A>C |