HGVS | Genome Assembly |
---|---|
NC_000003.12:g.186848953T>C , CM000665.2:g.186848953T>C | GRCh38 |
NC_000003.11:g.186566742T>C , CM000665.1:g.186566742T>C | GRCh37 |
NC_000003.10:g.188049436T>C | NCBI36 |
NG_021140.1:g.11280T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320741.7:c.-8-4098T>C MANE Select | ENSP00000320709.2:n.-8-4098T>C | |
ENST00000320741.6:c.-8-4098T>C | ENSP00000320709.2:n.-8-4098T>C | |
ENST00000444204.2:c.-9+3346T>C | ENSP00000389814.2:n.-9+3346T>C | |
NM_001177800.1:c.-9+3346T>C | NP_001171271.1:n.-9+3346T>C | |
NM_004797.3:c.-8-4098T>C | NP_004788.1:n.-8-4098T>C | |
XM_011513324.1:c.-124-2153T>C | XP_011511626.1:n.-124-2153T>C | |
NM_004797.4:c.-8-4098T>C MANE Select | NP_004788.1:n.-8-4098T>C | |
NM_001177800.2:c.-9+3346T>C | NP_001171271.1:n.-9+3346T>C |