Linked Data
ClinVar Variation Id:
380361
dbSNP Id:
rs782096458
ExAC:
7:73452035 A / C
gnomAD v2:
7-73452035-A-C
gnomAD v3:
7-74037705-A-C
gnomAD v4:
7-74037705-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74037705A>C , CM000669.2:g.74037705A>C | GRCh38 |
| NC_000007.13:g.73452035A>C , CM000669.1:g.73452035A>C | GRCh37 |
| NC_000007.12:g.73089971A>C | NCBI36 |
| NG_009261.1:g.14609A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692049.1:c.164-2A>C | ENSP00000510104.1:n.164-2A>C | |
| ENST00000252034.12:c.164-2A>C MANE Select | ENSP00000252034.7:n.164-2A>C | |
| ENST00000252034.11:c.164-2A>C | ENSP00000252034.7:n.164-2A>C | |
| ENST00000320399.10:c.164-2A>C | ENSP00000313565.6:n.164-2A>C | |
| ENST00000320492.11:c.164-2A>C | ENSP00000315607.7:n.164-2A>C | |
| ENST00000357036.9:c.164-2A>C | ENSP00000349540.5:n.164-2A>C | |
| ENST00000358929.8:c.164-2A>C | ENSP00000351807.5:n.164-2A>C | |
| ENST00000380553.8:c.164-2A>C | ENSP00000369926.4:n.164-2A>C | |
| ENST00000380562.8:c.164-2A>C | ENSP00000369936.4:n.164-2A>C | |
| ENST00000380575.8:c.134-2A>C | ENSP00000369949.4:n.134-2A>C | |
| ENST00000380576.9:c.164-2A>C | ENSP00000369950.5:n.164-2A>C | |
| ENST00000380584.8:c.164-2A>C | ENSP00000369958.4:n.164-2A>C | |
| ENST00000414324.5:c.134-2A>C | ENSP00000392575.1:n.134-2A>C | |
| ENST00000416107.5:c.*231-2A>C | ENSP00000404138.1:n.*231-2A>C | |
| ENST00000417091.5:c.164-2A>C | ENSP00000411092.1:n.164-2A>C | |
| ENST00000428787.5:c.164-2A>C | ENSP00000399499.1:n.164-2A>C | |
| ENST00000429192.5:c.164-2A>C | ENSP00000391129.1:n.164-2A>C | |
| ENST00000431562.5:c.134-2A>C | ENSP00000394549.1:n.134-2A>C | |
| ENST00000438880.5:c.164-2A>C | ENSP00000389206.1:n.164-2A>C | |
| ENST00000438906.5:c.164-2A>C | ENSP00000406949.1:n.164-2A>C | |
| ENST00000442310.5:c.164-2A>C | ENSP00000403961.1:n.164-2A>C | |
| ENST00000445912.5:c.164-2A>C | ENSP00000389857.1:n.164-2A>C | |
| ENST00000458204.5:c.134-2A>C | ENSP00000403162.1:n.134-2A>C | |
| ENST00000462506.5:n.179-2A>C | ||
| ENST00000468517.5:n.226-2A>C | ||
| ENST00000473323.1:n.176-2A>C | ||
| ENST00000479432.5:n.179-2A>C | ||
| ENST00000480728.5:n.178-2A>C | ||
| ENST00000492003.5:n.228-2A>C | ||
| ENST00000494160.5:n.238-2A>C | ||
| ENST00000621115.4:c.134-2A>C | ENSP00000480955.1:n.134-2A>C | |
| NM_000501.3:c.164-2A>C | NP_000492.2:n.164-2A>C | |
| NM_001081752.2:c.134-2A>C | NP_001075221.1:n.134-2A>C | |
| NM_001081753.2:c.164-2A>C | NP_001075222.1:n.164-2A>C | |
| NM_001081754.2:c.164-2A>C | NP_001075223.1:n.164-2A>C | |
| NM_001081755.2:c.164-2A>C | NP_001075224.1:n.164-2A>C | |
| NM_001278912.1:c.164-2A>C | NP_001265841.1:n.164-2A>C | |
| NM_001278913.1:c.164-2A>C | NP_001265842.1:n.164-2A>C | |
| NM_001278914.1:c.134-2A>C | NP_001265843.1:n.134-2A>C | |
| NM_001278915.1:c.164-2A>C | NP_001265844.1:n.164-2A>C | |
| NM_001278916.1:c.164-2A>C | NP_001265845.1:n.164-2A>C | |
| NM_001278917.1:c.134-2A>C | NP_001265846.1:n.134-2A>C | |
| NM_001278918.1:c.134-2A>C | NP_001265847.1:n.134-2A>C | |
| NM_001278939.1:c.164-2A>C | NP_001265868.1:n.164-2A>C | |
| XM_005250187.1:c.164-2A>C | XP_005250244.1:n.164-2A>C | |
| XM_005250188.1:c.164-2A>C | XP_005250245.1:n.164-2A>C | |
| XM_011515868.1:c.164-2A>C | XP_011514170.1:n.164-2A>C | |
| XM_011515869.1:c.134-2A>C | XP_011514171.1:n.134-2A>C | |
| XM_011515870.1:c.164-2A>C | XP_011514172.1:n.164-2A>C | |
| XM_011515871.1:c.164-2A>C | XP_011514173.1:n.164-2A>C | |
| XM_011515872.1:c.164-2A>C | XP_011514174.1:n.164-2A>C | |
| XM_011515873.1:c.164-2A>C | XP_011514175.1:n.164-2A>C | |
| XM_011515874.1:c.134-2A>C | XP_011514176.1:n.134-2A>C | |
| XM_011515875.1:c.134-2A>C | XP_011514177.1:n.134-2A>C | |
| XM_011515876.1:c.164-2A>C | XP_011514178.1:n.164-2A>C | |
| XM_011515877.1:c.164-2A>C | XP_011514179.1:n.164-2A>C | |
| XM_005250187.2:c.164-2A>C | XP_005250244.1:n.164-2A>C | |
| XM_005250188.2:c.164-2A>C | XP_005250245.1:n.164-2A>C | |
| XM_011515868.2:c.164-2A>C | XP_011514170.1:n.164-2A>C | |
| XM_011515871.2:c.164-2A>C | XP_011514173.1:n.164-2A>C | |
| XM_011515872.2:c.164-2A>C | XP_011514174.1:n.164-2A>C | |
| XM_011515873.2:c.164-2A>C | XP_011514175.1:n.164-2A>C | |
| XM_011515875.2:c.134-2A>C | XP_011514177.1:n.134-2A>C | |
| XM_011515876.2:c.164-2A>C | XP_011514178.1:n.164-2A>C | |
| XM_011515877.2:c.164-2A>C | XP_011514179.1:n.164-2A>C | |
| XM_017011813.1:c.134-2A>C | XP_016867302.1:n.134-2A>C | |
| XM_017011814.2:c.164-2A>C | XP_016867303.1:n.164-2A>C | |
| NM_000501.4:c.164-2A>C MANE Select | NP_000492.2:n.164-2A>C | |
| NM_001081752.3:c.134-2A>C | NP_001075221.1:n.134-2A>C | |
| NM_001081753.3:c.164-2A>C | NP_001075222.1:n.164-2A>C | |
| NM_001081754.3:c.164-2A>C | NP_001075223.1:n.164-2A>C | |
| NM_001081755.3:c.164-2A>C | NP_001075224.1:n.164-2A>C | |
| NM_001278912.2:c.164-2A>C | NP_001265841.1:n.164-2A>C | |
| NM_001278913.2:c.164-2A>C | NP_001265842.1:n.164-2A>C | |
| NM_001278914.2:c.134-2A>C | NP_001265843.1:n.134-2A>C | |
| NM_001278915.2:c.164-2A>C | NP_001265844.1:n.164-2A>C | |
| NM_001278916.2:c.164-2A>C | NP_001265845.1:n.164-2A>C | |
| NM_001278917.2:c.134-2A>C | NP_001265846.1:n.134-2A>C | |
| NM_001278918.2:c.134-2A>C | NP_001265847.1:n.134-2A>C | |
| NM_001278939.2:c.164-2A>C | NP_001265868.1:n.164-2A>C |