HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6023507G>T , CM000674.2:g.6023507G>T | GRCh38 |
NC_000012.11:g.6132673G>T , CM000674.1:g.6132673G>T | GRCh37 |
NC_000012.10:g.6002934G>T | NCBI36 |
NG_009072.1:g.106164C>A | |
NG_009072.2:g.106164C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.3379+124C>A MANE Select | ENSP00000261405.5:n.3379+124C>A | |
ENST00000261405.9:c.3379+124C>A | ENSP00000261405.5:n.3379+124C>A | |
ENST00000538635.5:n.421-29573C>A | ||
NM_000552.3:c.3379+124C>A | NP_000543.2:n.3379+124C>A | |
NM_000552.4:c.3379+124C>A | NP_000543.2:n.3379+124C>A | |
NM_000552.5:c.3379+124C>A MANE Select | NP_000543.3:n.3379+124C>A |