HGVS | Genome Assembly |
---|---|
NC_000007.14:g.86844997T>C , CM000669.2:g.86844997T>C | GRCh38 |
NC_000007.13:g.86474313T>C , CM000669.1:g.86474313T>C | GRCh37 |
NC_000007.12:g.86312249T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361669.7:c.2391+5092T>C MANE Select | ENSP00000355316.2:n.2391+5092T>C | |
ENST00000361669.6:c.2391+5092T>C | ENSP00000355316.2:n.2391+5092T>C | |
ENST00000439827.1:c.1325-5373T>C | ENSP00000398767.1:n.1325-5373T>C | |
NM_000840.2:c.2391+5092T>C | NP_000831.2:n.2391+5092T>C | |
XM_011516088.1:c.1325-5373T>C | XP_011514390.1:n.1325-5373T>C | |
NM_001363522.1:c.1325-5373T>C | NP_001350451.1:n.1325-5373T>C | |
NM_000840.3:c.2391+5092T>C MANE Select | NP_000831.2:n.2391+5092T>C | |
NM_001363522.2:c.1325-5373T>C | NP_001350451.1:n.1325-5373T>C |