HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94775750A>C , CM000672.2:g.94775750A>C | GRCh38 |
NC_000010.10:g.96535507A>C , CM000672.1:g.96535507A>C | GRCh37 |
NC_000010.9:g.96525497A>C | NCBI36 |
NG_008384.2:g.18045A>C | |
NG_008384.3:g.18070A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.481+211A>C MANE Select | ENSP00000360372.3:n.481+211A>C | |
ENST00000645461.1:n.1534+211A>C | ||
ENST00000371321.7:c.481+211A>C | ENSP00000360372.3:n.481+211A>C | |
ENST00000464755.1:c.1244+211A>C | ENSP00000483243.1:n.1244+211A>C | |
ENST00000480405.2:c.*203A>C | ENSP00000483847.1:n.*203A>C | |
NM_000769.2:c.481+211A>C | NP_000760.1:n.481+211A>C | |
NM_000769.4:c.481+211A>C MANE Select | NP_000760.1:n.481+211A>C |