HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6058174A>C , CM000674.2:g.6058174A>C | GRCh38 |
NC_000012.11:g.6167340A>C , CM000674.1:g.6167340A>C | GRCh37 |
NC_000012.10:g.6037601A>C | NCBI36 |
NG_009072.1:g.71497T>G | |
NG_009072.2:g.71497T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.1534-130T>G MANE Select | ENSP00000261405.5:n.1534-130T>G | |
ENST00000261405.9:c.1534-130T>G | ENSP00000261405.5:n.1534-130T>G | |
ENST00000538635.5:n.420+52341T>G | ||
NM_000552.3:c.1534-130T>G | NP_000543.2:n.1534-130T>G | |
NM_000552.4:c.1534-130T>G | NP_000543.2:n.1534-130T>G | |
NM_000552.5:c.1534-130T>G MANE Select | NP_000543.3:n.1534-130T>G |