HGVS | Genome Assembly |
---|---|
NC_000001.11:g.153966654C>G , CM000663.2:g.153966654C>G | GRCh38 |
NC_000001.10:g.153939130C>G , CM000663.1:g.153939130C>G | GRCh37 |
NC_000001.9:g.152205754C>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648921.1:c.193-2951G>C | ENSP00000498105.1:n.193-2951G>C | |
ENST00000310483.10:c.-140+732G>C | ENSP00000309710.6:n.-140+732G>C | |
ENST00000413622.5:c.-140+797G>C | ENSP00000392229.1:n.-140+797G>C | |
ENST00000617697.4:c.-140+1430G>C | ENSP00000479421.1:n.-140+1430G>C | |
NM_001271960.1:c.-140+1430G>C | NP_001258889.1:n.-140+1430G>C | |
NM_014437.4:c.-140+732G>C | NP_055252.2:n.-140+732G>C | |
NM_014437.5:c.-140+732G>C | NP_055252.2:n.-140+732G>C | |
NM_001271960.2:c.-140+1430G>C | NP_001258889.1:n.-140+1430G>C |