HGVS | Genome Assembly |
---|---|
NC_000001.11:g.45500326G>C , CM000663.2:g.45500326G>C | GRCh38 |
NC_000001.10:g.45965998G>C , CM000663.1:g.45965998G>C | GRCh37 |
NC_000001.9:g.45738585G>C | NCBI36 |
NG_013378.1:g.5143G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000401061.9:c.-7G>C MANE Select | ENSP00000383840.4:n.-7G>C | |
ENST00000401061.8:c.-7G>C | ENSP00000383840.4:n.-7G>C | |
NM_015506.2:c.-7G>C | NP_056321.2:n.-7G>C | |
XM_005270724.3:c.-7G>C | XP_005270781.1:n.-7G>C | |
XM_011541204.1:c.-229G>C | XP_011539506.1:n.-229G>C | |
NM_001330540.1:c.-229G>C | NP_001317469.1:n.-229G>C | |
XM_005270724.5:c.-7G>C | XP_005270781.1:n.-7G>C | |
NM_015506.3:c.-7G>C MANE Select | NP_056321.2:n.-7G>C | |
NM_001330540.2:c.-229G>C | NP_001317469.1:n.-229G>C |