HGVS | Genome Assembly |
---|---|
NC_000010.11:g.129467282A>C , CM000672.2:g.129467282A>C | GRCh38 |
NC_000010.10:g.131265546A>C , CM000672.1:g.131265546A>C | GRCh37 |
NC_000010.9:g.131155536A>C | NCBI36 |
NG_052673.1:g.5099A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306010.8:c.67A>C | ENSP00000302111.7:p.Thr23Pro | |
ENST00000651593.1:c.-27A>C MANE Select | ENSP00000498729.1:n.-27A>C | |
ENST00000306010.7:c.67A>C | ENSP00000302111.7:p.Thr23Pro | |
ENST00000482547.1:n.21A>C | ||
ENST00000482653.1:n.54A>C | ||
NM_002412.3:c.67A>C | NP_002403.2:p.Thr23Pro | |
NM_002412.4:c.67A>C | NP_002403.2:p.Thr23Pro | |
NM_002412.5:c.-27A>C MANE Select | NP_002403.3:n.-27A>C |