HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45803930T>C , CM000681.2:g.45803930T>C | GRCh38 |
NC_000019.9:g.46307188T>C , CM000681.1:g.46307188T>C | GRCh37 |
NC_000019.8:g.50999028T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221538.8:c.1653+322A>G MANE Select | ENSP00000221538.2:n.1653+322A>G | |
ENST00000221538.7:c.1653+322A>G | ENSP00000221538.2:n.1653+322A>G | |
ENST00000597055.1:c.1653+322A>G | ENSP00000472630.1:n.1653+322A>G | |
ENST00000600188.5:c.861+322A>G | ENSP00000471559.1:n.861+322A>G | |
NM_030785.3:c.1653+322A>G | NP_110412.1:n.1653+322A>G | |
XM_011527351.1:c.1653+322A>G | XP_011525653.1:n.1653+322A>G | |
XM_011527351.2:c.1653+322A>G | XP_011525653.1:n.1653+322A>G | |
NM_030785.4:c.1653+322A>G MANE Select | NP_110412.1:n.1653+322A>G |