HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787704A>G , CM000681.2:g.18787704A>G | GRCh38 |
NC_000019.9:g.18898513A>G , CM000681.1:g.18898513A>G | GRCh37 |
NC_000019.8:g.18759513A>G | NCBI36 |
NG_007070.1:g.8602T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.976-54T>C MANE Select | ENSP00000222271.2:n.976-54T>C | |
ENST00000222271.6:c.976-54T>C | ENSP00000222271.2:n.976-54T>C | |
ENST00000425807.1:c.817-54T>C | ENSP00000403792.1:n.817-54T>C | |
ENST00000542601.6:c.877-54T>C | ENSP00000439156.2:n.877-54T>C | |
NM_000095.2:c.976-54T>C | NP_000086.2:n.976-54T>C | |
NM_000095.3:c.976-54T>C MANE Select | NP_000086.2:n.976-54T>C |