HGVS | Genome Assembly |
---|---|
NC_000010.11:g.129467291G>T , CM000672.2:g.129467291G>T | GRCh38 |
NC_000010.10:g.131265555G>T , CM000672.1:g.131265555G>T | GRCh37 |
NC_000010.9:g.131155545G>T | NCBI36 |
NG_052673.1:g.5108G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306010.8:c.76G>T | ENSP00000302111.7:p.Asp26Tyr | |
ENST00000651593.1:c.-18G>T MANE Select | ENSP00000498729.1:n.-18G>T | |
ENST00000306010.7:c.76G>T | ENSP00000302111.7:p.Asp26Tyr | |
ENST00000482547.1:n.30G>T | ||
ENST00000482653.1:n.63G>T | ||
NM_002412.3:c.76G>T | NP_002403.2:p.Asp26Tyr | |
NM_002412.4:c.76G>T | NP_002403.2:p.Asp26Tyr | |
NM_002412.5:c.-18G>T MANE Select | NP_002403.3:n.-18G>T |