HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21178527G>C , CM000674.2:g.21178527G>C | GRCh38 |
NC_000012.11:g.21331461G>C , CM000674.1:g.21331461G>C | GRCh37 |
NC_000012.10:g.21222728G>C | NCBI36 |
NG_011745.1:g.52334G>C , LRG_1022:g.52334G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000256958.3:c.482-49G>C MANE Select | ENSP00000256958.2:n.482-49G>C | |
ENST00000256958.2:c.482-49G>C | ENSP00000256958.2:n.482-49G>C | |
NM_006446.4:c.482-49G>C , LRG_1022t1:c.482-49G>C | NP_006437.3:n.482-49G>C | |
NM_006446.5:c.482-49G>C MANE Select | NP_006437.3:n.482-49G>C |