Linked Data
ClinVar Variation Id:
760844
ClinVar RCV Id:
RCV000938832
dbSNP Id:
rs546609337
ExAC:
15:43739687 A / G
gnomAD v2:
15-43739687-A-G
gnomAD v3:
15-43447489-A-G
gnomAD v4:
15-43447489-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43447489A>G , CM000677.2:g.43447489A>G | GRCh38 |
| NC_000015.9:g.43739687A>G , CM000677.1:g.43739687A>G | GRCh37 |
| NC_000015.8:g.41526979A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382044.9:c.2717-4T>C MANE Select | ENSP00000371475.5:n.2717-4T>C | |
| ENST00000263801.7:c.2702-4T>C | ENSP00000263801.3:n.2702-4T>C | |
| ENST00000382039.7:c.2717-4T>C | ENSP00000371470.3:n.2717-4T>C | |
| ENST00000382044.8:c.2717-4T>C | ENSP00000371475.4:n.2717-4T>C | |
| ENST00000411772.5:c.441-4T>C | ||
| ENST00000413546.1:c.2717-899T>C | ENSP00000388028.1:n.2717-899T>C | |
| ENST00000414758.1:n.134-4T>C | ||
| ENST00000450115.6:c.2717-4T>C | ENSP00000393497.2:n.2717-4T>C | |
| ENST00000480860.1:n.262-5906T>C | ||
| ENST00000572085.5:n.2830-4T>C | ||
| ENST00000605155.1:n.288-4T>C | ||
| NM_001141979.1:c.2717-4T>C | NP_001135451.1:n.2717-4T>C | |
| NM_001141980.1:c.2717-4T>C | NP_001135452.1:n.2717-4T>C | |
| NM_005657.2:c.2702-4T>C | NP_005648.1:n.2702-4T>C | |
| XM_011521984.1:c.2702-4T>C | XP_011520286.1:n.2702-4T>C | |
| XM_011521985.1:c.2717-4T>C | XP_011520287.1:n.2717-4T>C | |
| XM_011521986.1:c.2717-4T>C | XP_011520288.1:n.2717-4T>C | |
| XR_931898.1:n.2829-4T>C | ||
| XR_931899.1:n.2829-4T>C | ||
| NM_001141979.2:c.2717-4T>C | NP_001135451.1:n.2717-4T>C | |
| NM_001141980.2:c.2717-4T>C | NP_001135452.1:n.2717-4T>C | |
| NM_001355001.1:c.-313-4T>C | NP_001341930.1:n.-313-4T>C | |
| NM_005657.3:c.2702-4T>C | NP_005648.1:n.2702-4T>C | |
| XM_011521985.2:c.2717-4T>C | XP_011520287.1:n.2717-4T>C | |
| XM_011521986.3:c.2717-4T>C | XP_011520288.1:n.2717-4T>C | |
| XR_001751382.2:n.2830-4T>C | ||
| XR_931899.2:n.2830-4T>C | ||
| NM_001141979.3:c.2717-4T>C | NP_001135451.1:n.2717-4T>C | |
| NM_001141980.3:c.2717-4T>C MANE Select | NP_001135452.1:n.2717-4T>C | |
| NM_001355001.2:c.-313-4T>C | NP_001341930.1:n.-313-4T>C | |
| NM_005657.4:c.2702-4T>C | NP_005648.1:n.2702-4T>C |