HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739061T>C , CM000674.2:g.120739061T>C | GRCh38 |
NC_000012.11:g.121176864T>C , CM000674.1:g.121176864T>C | GRCh37 |
NC_000012.10:g.119661247T>C | NCBI36 |
NG_007991.1:g.18294T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.1030-79T>C MANE Select | ENSP00000242592.4:n.1030-79T>C | |
ENST00000242592.8:c.1030-79T>C | ENSP00000242592.4:n.1030-79T>C | |
ENST00000411593.2:c.1018-79T>C | ENSP00000401045.2:n.1018-79T>C | |
NM_000017.3:c.1030-79T>C | NP_000008.1:n.1030-79T>C | |
NM_001302554.1:c.1018-79T>C | NP_001289483.1:n.1018-79T>C | |
NM_000017.4:c.1030-79T>C MANE Select | NP_000008.1:n.1030-79T>C | |
NM_001302554.2:c.1018-79T>C | NP_001289483.1:n.1018-79T>C |