Linked Data
ClinVar Variation Id:
283421
dbSNP Id:
rs200663056
ExAC:
7:73459542 C / G
gnomAD v2:
7-73459542-C-G
gnomAD v3:
7-74045212-C-G
gnomAD v4:
7-74045212-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74045212C>G , CM000669.2:g.74045212C>G | GRCh38 |
| NC_000007.13:g.73459542C>G , CM000669.1:g.73459542C>G | GRCh37 |
| NC_000007.12:g.73097478C>G | NCBI36 |
| NG_009261.1:g.22116C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692049.1:c.470-10C>G | ENSP00000510104.1:n.470-10C>G | |
| ENST00000252034.12:c.470-10C>G MANE Select | ENSP00000252034.7:n.470-10C>G | |
| ENST00000252034.11:c.470-10C>G | ENSP00000252034.7:n.470-10C>G | |
| ENST00000320399.10:c.470-10C>G | ENSP00000313565.6:n.470-10C>G | |
| ENST00000320492.11:c.434-10C>G | ENSP00000315607.7:n.434-10C>G | |
| ENST00000357036.9:c.485-10C>G | ENSP00000349540.5:n.485-10C>G | |
| ENST00000358929.8:c.470-10C>G | ENSP00000351807.5:n.470-10C>G | |
| ENST00000380553.8:c.233-976C>G | ENSP00000369926.4:n.233-976C>G | |
| ENST00000380562.8:c.470-10C>G | ENSP00000369936.4:n.470-10C>G | |
| ENST00000380575.8:c.440-10C>G | ENSP00000369949.4:n.440-10C>G | |
| ENST00000380576.9:c.470-10C>G | ENSP00000369950.5:n.470-10C>G | |
| ENST00000380584.8:c.470-10C>G | ENSP00000369958.4:n.470-10C>G | |
| ENST00000414324.5:c.455-10C>G | ENSP00000392575.1:n.455-10C>G | |
| ENST00000417091.5:c.469+1292C>G | ENSP00000411092.1:n.469+1292C>G | |
| ENST00000419398.1:c.452-10C>G | ENSP00000412262.1:n.452-10C>G | |
| ENST00000428787.5:c.326-1484C>G | ENSP00000399499.1:n.326-1484C>G | |
| ENST00000429192.5:c.485-10C>G | ENSP00000391129.1:n.485-10C>G | |
| ENST00000431562.5:c.404-10C>G | ENSP00000394549.1:n.404-10C>G | |
| ENST00000438880.5:c.197-1484C>G | ENSP00000389206.1:n.197-1484C>G | |
| ENST00000438906.5:c.434-10C>G | ENSP00000406949.1:n.434-10C>G | |
| ENST00000442310.5:c.428-976C>G | ENSP00000403961.1:n.428-976C>G | |
| ENST00000445912.5:c.470-10C>G | ENSP00000389857.1:n.470-10C>G | |
| ENST00000458204.5:c.440-10C>G | ENSP00000403162.1:n.440-10C>G | |
| ENST00000479432.5:n.449-10C>G | ||
| ENST00000621115.4:c.439+1292C>G | ENSP00000480955.1:n.439+1292C>G | |
| NM_000501.3:c.470-10C>G | NP_000492.2:n.470-10C>G | |
| NM_001081752.2:c.440-10C>G | NP_001075221.1:n.440-10C>G | |
| NM_001081753.2:c.485-10C>G | NP_001075222.1:n.485-10C>G | |
| NM_001081754.2:c.485-10C>G | NP_001075223.1:n.485-10C>G | |
| NM_001081755.2:c.470-10C>G | NP_001075224.1:n.470-10C>G | |
| NM_001278912.1:c.470-10C>G | NP_001265841.1:n.470-10C>G | |
| NM_001278913.1:c.434-10C>G | NP_001265842.1:n.434-10C>G | |
| NM_001278914.1:c.455-10C>G | NP_001265843.1:n.455-10C>G | |
| NM_001278915.1:c.470-10C>G | NP_001265844.1:n.470-10C>G | |
| NM_001278916.1:c.470-10C>G | NP_001265845.1:n.470-10C>G | |
| NM_001278917.1:c.440-10C>G | NP_001265846.1:n.440-10C>G | |
| NM_001278918.1:c.439+1292C>G | NP_001265847.1:n.439+1292C>G | |
| NM_001278939.1:c.470-10C>G | NP_001265868.1:n.470-10C>G | |
| XM_005250187.1:c.434-10C>G | XP_005250244.1:n.434-10C>G | |
| XM_005250188.1:c.470-10C>G | XP_005250245.1:n.470-10C>G | |
| XM_011515868.1:c.485-10C>G | XP_011514170.1:n.485-10C>G | |
| XM_011515869.1:c.455-10C>G | XP_011514171.1:n.455-10C>G | |
| XM_011515870.1:c.449-10C>G | XP_011514172.1:n.449-10C>G | |
| XM_011515871.1:c.485-10C>G | XP_011514173.1:n.485-10C>G | |
| XM_011515872.1:c.485-10C>G | XP_011514174.1:n.485-10C>G | |
| XM_011515873.1:c.485-10C>G | XP_011514175.1:n.485-10C>G | |
| XM_011515874.1:c.419-10C>G | XP_011514176.1:n.419-10C>G | |
| XM_011515875.1:c.404-10C>G | XP_011514177.1:n.404-10C>G | |
| XM_011515876.1:c.485-10C>G | XP_011514178.1:n.485-10C>G | |
| XM_011515877.1:c.485-10C>G | XP_011514179.1:n.485-10C>G | |
| XM_005250187.2:c.434-10C>G | XP_005250244.1:n.434-10C>G | |
| XM_005250188.2:c.470-10C>G | XP_005250245.1:n.470-10C>G | |
| XM_011515868.2:c.485-10C>G | XP_011514170.1:n.485-10C>G | |
| XM_011515871.2:c.485-10C>G | XP_011514173.1:n.485-10C>G | |
| XM_011515872.2:c.485-10C>G | XP_011514174.1:n.485-10C>G | |
| XM_011515873.2:c.485-10C>G | XP_011514175.1:n.485-10C>G | |
| XM_011515875.2:c.404-10C>G | XP_011514177.1:n.404-10C>G | |
| XM_011515876.2:c.485-10C>G | XP_011514178.1:n.485-10C>G | |
| XM_011515877.2:c.485-10C>G | XP_011514179.1:n.485-10C>G | |
| XM_017011813.1:c.440-10C>G | XP_016867302.1:n.440-10C>G | |
| XM_017011814.2:c.485-10C>G | XP_016867303.1:n.485-10C>G | |
| NM_000501.4:c.470-10C>G MANE Select | NP_000492.2:n.470-10C>G | |
| NM_001081752.3:c.440-10C>G | NP_001075221.1:n.440-10C>G | |
| NM_001081753.3:c.485-10C>G | NP_001075222.1:n.485-10C>G | |
| NM_001081754.3:c.485-10C>G | NP_001075223.1:n.485-10C>G | |
| NM_001081755.3:c.470-10C>G | NP_001075224.1:n.470-10C>G | |
| NM_001278912.2:c.470-10C>G | NP_001265841.1:n.470-10C>G | |
| NM_001278913.2:c.434-10C>G | NP_001265842.1:n.434-10C>G | |
| NM_001278914.2:c.455-10C>G | NP_001265843.1:n.455-10C>G | |
| NM_001278915.2:c.470-10C>G | NP_001265844.1:n.470-10C>G | |
| NM_001278916.2:c.470-10C>G | NP_001265845.1:n.470-10C>G | |
| NM_001278917.2:c.440-10C>G | NP_001265846.1:n.440-10C>G | |
| NM_001278918.2:c.439+1292C>G | NP_001265847.1:n.439+1292C>G | |
| NM_001278939.2:c.470-10C>G | NP_001265868.1:n.470-10C>G |