HGVS | Genome Assembly |
---|---|
NC_000010.11:g.129467285G>C , CM000672.2:g.129467285G>C | GRCh38 |
NC_000010.10:g.131265549G>C , CM000672.1:g.131265549G>C | GRCh37 |
NC_000010.9:g.131155539G>C | NCBI36 |
NG_052673.1:g.5102G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306010.8:c.70G>C | ENSP00000302111.7:p.Val24Leu | |
ENST00000651593.1:c.-24G>C MANE Select | ENSP00000498729.1:n.-24G>C | |
ENST00000306010.7:c.70G>C | ENSP00000302111.7:p.Val24Leu | |
ENST00000482547.1:n.24G>C | ||
ENST00000482653.1:n.57G>C | ||
NM_002412.3:c.70G>C | NP_002403.2:p.Val24Leu | |
NM_002412.4:c.70G>C | NP_002403.2:p.Val24Leu | |
NM_002412.5:c.-24G>C MANE Select | NP_002403.3:n.-24G>C |