Linked Data
ClinVar Variation Id:
911316
ClinVar RCV Id:
RCV001163693
dbSNP Id:
rs1050676312
gnomAD v2:
7-130040537-A-G
gnomAD v3:
7-130400696-A-G
gnomAD v4:
7-130400696-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130400696A>G , CM000669.2:g.130400696A>G | GRCh38 |
| NC_000007.13:g.130040537A>G , CM000669.1:g.130040537A>G | GRCh37 |
| NC_000007.12:g.129827773A>G | NCBI36 |
| NG_032164.1:g.45515T>C | |
| NG_032164.2:g.45515T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.757+11T>C MANE Select | ENSP00000223208.4:n.757+11T>C | |
| ENST00000343969.10:c.766+2T>C | ENSP00000342738.6:n.766+2T>C | |
| ENST00000480206.2:c.768T>C | ENSP00000502099.1:p.Gly256= | |
| ENST00000484549.6:c.*929+11T>C | ENSP00000419078.2:n.*929+11T>C | |
| ENST00000492389.6:c.777+11T>C | ENSP00000419192.2:n.777+11T>C | |
| ENST00000541543.6:c.748+11T>C | ENSP00000445888.2:n.748+11T>C | |
| ENST00000674539.1:c.423-1657T>C | ENSP00000502834.1:n.423-1657T>C | |
| ENST00000674630.1:c.*303+11T>C | ENSP00000502521.1:n.*303+11T>C | |
| ENST00000675138.1:c.802+11T>C | ENSP00000501597.1:n.802+11T>C | |
| ENST00000675168.1:c.709+11T>C | ENSP00000501563.1:n.709+11T>C | |
| ENST00000675328.1:n.567+11T>C | ||
| ENST00000675542.1:n.722+11T>C | ||
| ENST00000675563.1:c.148+11T>C | ENSP00000502483.1:n.148+11T>C | |
| ENST00000675596.1:c.757+11T>C | ENSP00000501735.1:n.757+11T>C | |
| ENST00000675649.1:c.575-442T>C | ENSP00000502385.1:n.575-442T>C | |
| ENST00000675721.1:c.*700+11T>C | ENSP00000502026.1:n.*700+11T>C | |
| ENST00000675803.1:c.718+11T>C | ENSP00000502477.1:n.718+11T>C | |
| ENST00000675813.1:c.*661+11T>C | ENSP00000502785.1:n.*661+11T>C | |
| ENST00000675935.1:c.748+11T>C | ENSP00000501731.1:n.748+11T>C | |
| ENST00000675962.1:c.709+11T>C | ENSP00000502478.1:n.709+11T>C | |
| ENST00000676115.1:c.*678+11T>C | ENSP00000502631.1:n.*678+11T>C | |
| ENST00000676243.1:c.766+2T>C | ENSP00000501717.1:n.766+2T>C | |
| ENST00000676312.1:c.718+11T>C | ENSP00000502312.1:n.718+11T>C | |
| ENST00000223208.9:c.757+11T>C | ENSP00000223208.4:n.757+11T>C | |
| ENST00000343969.9:c.757+11T>C | ENSP00000342738.5:n.757+11T>C | |
| ENST00000480206.1:n.233T>C | ||
| ENST00000484549.5:c.*303+11T>C | ENSP00000419078.1:n.*303+11T>C | |
| ENST00000485736.5:n.440+11T>C | ||
| ENST00000541543.5:c.709+11T>C | ENSP00000445888.1:n.709+11T>C | |
| ENST00000603513.1:n.514T>C | ||
| NM_001257158.1:c.757+11T>C | NP_001244087.1:n.757+11T>C | |
| NM_001257159.1:c.709+11T>C | NP_001244088.1:n.709+11T>C | |
| NM_018718.2:c.757+11T>C | NP_061188.1:n.757+11T>C | |
| NR_046443.1:n.925+11T>C | ||
| XM_011516708.1:c.802+11T>C | XP_011515010.1:n.802+11T>C | |
| XM_011516709.1:c.652+11T>C | XP_011515011.1:n.652+11T>C | |
| XM_011516710.1:c.652+11T>C | XP_011515012.1:n.652+11T>C | |
| XM_011516711.1:c.652+11T>C | XP_011515013.1:n.652+11T>C | |
| XM_011516712.1:c.802+11T>C | XP_011515014.1:n.802+11T>C | |
| XM_011516709.3:c.652+11T>C | XP_011515011.1:n.652+11T>C | |
| XM_011516710.3:c.652+11T>C | XP_011515012.1:n.652+11T>C | |
| XM_024447004.1:c.718+11T>C | XP_024302772.1:n.718+11T>C | |
| NM_018718.3:c.757+11T>C MANE Select | NP_061188.1:n.757+11T>C | |
| NM_001257158.2:c.757+11T>C | NP_001244087.1:n.757+11T>C | |
| NR_046443.2:n.731+11T>C | ||
| NM_001257159.2:c.709+11T>C | NP_001244088.1:n.709+11T>C |