HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176118918T>G , CM000664.2:g.176118918T>G | GRCh38 |
NC_000002.11:g.176983646T>G , CM000664.1:g.176983646T>G | GRCh37 |
NC_000002.10:g.176691892T>G | NCBI36 |
NG_008133.2:g.12155T>G , LRG_246:g.12155T>G | |
NG_009225.1:g.1234T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249501.5:c.746-36T>G MANE Select | ENSP00000249501.4:n.746-36T>G | |
ENST00000249501.4:c.746-36T>G | ENSP00000249501.4:n.746-36T>G | |
ENST00000490088.2:n.570-36T>G | ||
ENST00000549469.1:n.617-36T>G | ||
NM_002148.3:c.746-36T>G , LRG_246t1:c.746-36T>G | NP_002139.2:n.746-36T>G | |
NM_002148.4:c.746-36T>G MANE Select | NP_002139.2:n.746-36T>G |