HGVS | Genome Assembly |
---|---|
NC_000010.11:g.129467286T>G , CM000672.2:g.129467286T>G | GRCh38 |
NC_000010.10:g.131265550T>G , CM000672.1:g.131265550T>G | GRCh37 |
NC_000010.9:g.131155540T>G | NCBI36 |
NG_052673.1:g.5103T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306010.8:c.71T>G | ENSP00000302111.7:p.Val24Gly | |
ENST00000651593.1:c.-23T>G MANE Select | ENSP00000498729.1:n.-23T>G | |
ENST00000306010.7:c.71T>G | ENSP00000302111.7:p.Val24Gly | |
ENST00000482547.1:n.25T>G | ||
ENST00000482653.1:n.58T>G | ||
NM_002412.3:c.71T>G | NP_002403.2:p.Val24Gly | |
NM_002412.4:c.71T>G | NP_002403.2:p.Val24Gly | |
NM_002412.5:c.-23T>G MANE Select | NP_002403.3:n.-23T>G |