HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24491146T>C , CM000668.2:g.24491146T>C | GRCh38 |
NC_000006.11:g.24491374T>C , CM000668.1:g.24491374T>C | GRCh37 |
NC_000006.10:g.24599353T>C | NCBI36 |
NG_008161.1:g.1178T>C | |
NG_029888.2:g.3477A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000474784.5:n.240-1649A>G | ||
ENST00000475417.1:n.234-1649A>G | ||
XM_011514509.1:c.45-1649A>G | XP_011512811.1:n.45-1649A>G | |
XM_017010753.2:c.45-1649A>G | XP_016866242.1:n.45-1649A>G | |
XR_002956277.1:n.267-1649A>G |