HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24491168A>G , CM000668.2:g.24491168A>G | GRCh38 |
NC_000006.11:g.24491396A>G , CM000668.1:g.24491396A>G | GRCh37 |
NC_000006.10:g.24599375A>G | NCBI36 |
NG_008161.1:g.1200A>G | |
NG_029888.2:g.3455T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000474784.5:n.240-1671T>C | ||
ENST00000475417.1:n.234-1671T>C | ||
XM_011514509.1:c.45-1671T>C | XP_011512811.1:n.45-1671T>C | |
XM_017010753.2:c.45-1671T>C | XP_016866242.1:n.45-1671T>C | |
XR_002956277.1:n.267-1671T>C |