Linked Data
ClinVar Variation Id:
2045258
ClinVar RCV Id:
RCV002918048
dbSNP Id:
rs1217727550
gnomAD v2:
1-78407895-T-C
gnomAD v4:
1-77942210-T-C
COSMIC:
COSM912323
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77942210T>C , CM000663.2:g.77942210T>C | GRCh38 |
| NC_000001.10:g.78407895T>C , CM000663.1:g.78407895T>C | GRCh37 |
| NC_000001.9:g.78180483T>C | NCBI36 |
| NG_016625.1:g.58696T>C , LRG_442:g.58696T>C | |
| NG_033243.2:g.41884A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334785.12:c.1659+2T>C MANE Select | ENSP00000333938.7:n.1659+2T>C | |
| ENST00000330010.12:c.1467+2T>C | ENSP00000327363.8:n.1467+2T>C | |
| ENST00000334785.11:c.1659+2T>C | ENSP00000333938.7:n.1659+2T>C | |
| ENST00000342754.5:c.1358+2T>C | ||
| ENST00000470735.1:n.498+2T>C | ||
| ENST00000480732.2:n.1233+2T>C | ||
| NM_001172309.1:c.1467+2T>C | NP_001165780.1:n.1467+2T>C | |
| NM_144573.3:c.1659+2T>C , LRG_442t1:c.1659+2T>C | NP_653174.3:n.1659+2T>C | |
| XM_005271322.2:c.1659+2T>C | XP_005271379.1:n.1659+2T>C | |
| XM_005271323.2:c.1617+2T>C | XP_005271380.1:n.1617+2T>C | |
| XM_005271324.3:c.1467+2T>C | XP_005271381.1:n.1467+2T>C | |
| XM_005271325.2:c.1437+2T>C | XP_005271382.1:n.1437+2T>C | |
| XM_005271326.2:c.1425+2T>C | XP_005271383.1:n.1425+2T>C | |
| XM_005271327.2:c.1242+2T>C | XP_005271384.1:n.1242+2T>C | |
| XM_005271322.4:c.1659+2T>C | XP_005271379.1:n.1659+2T>C | |
| XM_005271323.4:c.1617+2T>C | XP_005271380.1:n.1617+2T>C | |
| XM_005271324.5:c.1467+2T>C | XP_005271381.1:n.1467+2T>C | |
| XM_005271325.4:c.1437+2T>C | XP_005271382.1:n.1437+2T>C | |
| XM_005271326.4:c.1425+2T>C | XP_005271383.1:n.1425+2T>C | |
| XM_005271327.4:c.1242+2T>C | XP_005271384.1:n.1242+2T>C | |
| NM_001172309.2:c.1467+2T>C | NP_001165780.1:n.1467+2T>C | |
| NM_144573.4:c.1659+2T>C MANE Select | NP_653174.3:n.1659+2T>C |