Linked Data
ClinVar Variation Id:
415968
ClinVar RCV Id:
RCV001484160
dbSNP Id:
rs1060504701
gnomAD v3:
12-115982613-G-C
gnomAD v4:
12-115982613-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115982613G>C , CM000674.2:g.115982613G>C | GRCh38 |
| NC_000012.11:g.116420418G>C , CM000674.1:g.116420418G>C | GRCh37 |
| NC_000012.10:g.114904801G>C | NCBI36 |
| NG_023366.1:g.299574C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281928.9:c.4956-10C>G MANE Select | ENSP00000281928.3:n.4956-10C>G | |
| ENST00000549786.2:c.4384-10C>G | ||
| ENST00000648379.1:n.3324-10C>G | ||
| ENST00000648737.1:n.4720-10C>G | ||
| ENST00000648825.1:n.1696-10C>G | ||
| ENST00000648916.1:n.2967-10C>G | ||
| ENST00000649146.1:n.2189C>G | ||
| ENST00000649607.1:c.3140-10C>G | ||
| ENST00000649775.1:c.1453-18C>G | ||
| ENST00000650226.1:c.4956-10C>G | ENSP00000496981.1:n.4956-10C>G | |
| ENST00000281928.7:c.4956-10C>G | ENSP00000281928.3:n.4956-10C>G | |
| ENST00000549786.1:c.320-10C>G | ||
| NM_015335.4:c.4956-10C>G | NP_056150.1:n.4956-10C>G | |
| XM_011538080.1:c.4956-10C>G | XP_011536382.1:n.4956-10C>G | |
| XM_011538081.1:c.4953-10C>G | XP_011536383.1:n.4953-10C>G | |
| XM_011538082.1:c.4926-10C>G | XP_011536384.1:n.4926-10C>G | |
| XM_011538080.2:c.4956-10C>G | XP_011536382.1:n.4956-10C>G | |
| XM_011538081.2:c.4953-10C>G | XP_011536383.1:n.4953-10C>G | |
| XM_011538082.2:c.4926-10C>G | XP_011536384.1:n.4926-10C>G | |
| XM_017019090.1:c.4953-10C>G | XP_016874579.1:n.4953-10C>G | |
| NM_015335.5:c.4956-10C>G MANE Select | NP_056150.1:n.4956-10C>G |