HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65246012A>C , CM000674.2:g.65246012A>C | GRCh38 |
NC_000012.11:g.65639792A>C , CM000674.1:g.65639792A>C | GRCh37 |
NC_000012.10:g.63926059A>C | NCBI36 |
NG_016210.1:g.81442A>C | |
NG_016210.2:g.81442A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.2572+73A>C MANE Select | ENSP00000308369.2:n.2572+73A>C | |
ENST00000308330.2:c.2572+73A>C | ENSP00000308369.2:n.2572+73A>C | |
ENST00000539442.1:n.554+73A>C | ||
ENST00000544506.1:n.292+73A>C | ||
ENST00000545026.1:n.390+73A>C | ||
NM_001167614.1:c.2569+73A>C | NP_001161086.1:n.2569+73A>C | |
NM_014319.4:c.2572+73A>C | NP_055134.2:n.2572+73A>C | |
NM_014319.5:c.2572+73A>C MANE Select | NP_055134.2:n.2572+73A>C | |
NM_001167614.2:c.2569+73A>C | NP_001161086.1:n.2569+73A>C |