HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55096584C>A , CM000666.2:g.55096584C>A | GRCh38 |
NC_000004.11:g.55962751C>A , CM000666.1:g.55962751C>A | GRCh37 |
NC_000004.10:g.55657508C>A | NCBI36 |
NG_012004.1:g.34012G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263923.5:c.2615-242G>T MANE Select | ENSP00000263923.4:n.2615-242G>T | |
ENST00000647068.1:n.2628-242G>T | ||
ENST00000263923.4:c.2615-242G>T | ENSP00000263923.4:n.2615-242G>T | |
ENST00000509309.1:n.137G>T | ||
NM_002253.2:c.2615-242G>T | NP_002244.1:n.2615-242G>T | |
NM_002253.3:c.2615-242G>T | NP_002244.1:n.2615-242G>T | |
NM_002253.4:c.2615-242G>T MANE Select | NP_002244.1:n.2615-242G>T |