HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951999G>C , CM000670.2:g.19951999G>C | GRCh38 |
NC_000008.10:g.19809510G>C , CM000670.1:g.19809510G>C | GRCh37 |
NC_000008.9:g.19853790G>C | NCBI36 |
NG_008855.1:g.17929G>C | |
NG_008855.2:g.55283G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.429+51G>C MANE Select | ENSP00000497642.1:n.429+51G>C | |
ENST00000311322.8:c.429+51G>C | ENSP00000309757.6:n.429+51G>C | |
ENST00000520959.5:c.201+51G>C | ENSP00000428496.1:n.201+51G>C | |
NM_000237.2:c.429+51G>C | NP_000228.1:n.429+51G>C | |
NM_000237.3:c.429+51G>C MANE Select | NP_000228.1:n.429+51G>C |