Linked Data
ClinVar Variation Id:
217730
ClinVar RCV Id:
RCV000201535
dbSNP Id:
rs863225239
gnomAD v2:
8-94821394-G-A
gnomAD v4:
8-93809166-G-A
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93809166G>A , CM000670.2:g.93809166G>A | GRCh38 |
| NC_000008.10:g.94821394G>A , CM000670.1:g.94821394G>A | GRCh37 |
| NC_000008.9:g.94890570G>A | NCBI36 |
| NG_009190.1:g.59323G>A , LRG_688:g.59323G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323130.8:c.2661+5G>A | ENSP00000314488.4:n.2661+5G>A | |
| ENST00000409623.8:c.2616+5G>A | ENSP00000386966.4:n.2616+5G>A | |
| ENST00000452276.6:c.2544+5G>A | ENSP00000388671.2:n.2544+5G>A | |
| ENST00000453906.6:c.1779+5G>A | ENSP00000403035.2:n.1779+5G>A | |
| ENST00000518896.2:c.952+5G>A | ENSP00000507992.1:n.952+5G>A | |
| ENST00000520680.2:c.2784+5G>A | ENSP00000428785.2:n.2784+5G>A | |
| ENST00000521517.6:c.2562+5G>A | ENSP00000430740.2:n.2562+5G>A | |
| ENST00000681998.1:c.2482+5G>A | ENSP00000506773.1:n.2482+5G>A | |
| ENST00000682036.1:c.1902+5G>A | ENSP00000508390.1:n.1902+5G>A | |
| ENST00000682577.1:c.2434+5G>A | ENSP00000506963.1:n.2434+5G>A | |
| ENST00000682624.1:c.*2235+5G>A | ENSP00000508343.1:n.*2235+5G>A | |
| ENST00000682700.1:c.2661+5G>A | ENSP00000507627.1:n.2661+5G>A | |
| ENST00000682744.1:n.2199+5G>A | ||
| ENST00000682804.1:n.2484+5G>A | ||
| ENST00000682837.1:c.2150+5G>A | ENSP00000507920.1:n.2150+5G>A | |
| ENST00000682935.1:n.4711+5G>A | ||
| ENST00000682984.1:c.2322+5G>A | ENSP00000507209.1:n.2322+5G>A | |
| ENST00000683078.1:c.2416+5G>A | ENSP00000506796.1:n.2416+5G>A | |
| ENST00000683223.1:c.2393+5G>A | ENSP00000507685.1:n.2393+5G>A | |
| ENST00000683238.1:n.3885+5G>A | ||
| ENST00000683249.1:n.4258+5G>A | ||
| ENST00000683336.1:c.2482+5G>A | ENSP00000507695.1:n.2482+5G>A | |
| ENST00000683362.1:c.2322+5G>A | ENSP00000506985.1:n.2322+5G>A | |
| ENST00000683850.1:n.2589G>A | ||
| ENST00000683919.1:c.2591+5G>A | ENSP00000507617.1:n.2591+5G>A | |
| ENST00000683953.1:c.2572+5G>A | ENSP00000508375.1:n.2572+5G>A | |
| ENST00000684023.1:c.2638+5G>A | ENSP00000507461.1:n.2638+5G>A | |
| ENST00000684064.1:c.2352+5G>A | ENSP00000508192.1:n.2352+5G>A | |
| ENST00000684089.1:n.4211+5G>A | ||
| ENST00000684149.1:c.*1840+5G>A | ENSP00000507943.1:n.*1840+5G>A | |
| ENST00000684343.1:c.858+5G>A | ENSP00000507591.1:n.858+5G>A | |
| ENST00000684416.1:n.2620+5G>A | ||
| ENST00000684540.1:c.2591+5G>A | ENSP00000507987.1:n.2591+5G>A | |
| ENST00000453321.8:c.2661+5G>A MANE Select | ENSP00000389998.3:n.2661+5G>A | |
| ENST00000323130.7:c.2631+5G>A | ENSP00000314488.3:n.2631+5G>A | |
| ENST00000409623.7:c.2418+5G>A | ENSP00000386966.3:n.2418+5G>A | |
| ENST00000453321.7:c.2661+5G>A | ENSP00000389998.3:n.2661+5G>A | |
| ENST00000474944.5:n.1799+5G>A | ||
| ENST00000519845.5:n.1393+5G>A | ||
| NM_001142301.1:c.2418+5G>A , LRG_688t2:c.2418+5G>A | NP_001135773.1:n.2418+5G>A | |
| NM_153704.5:c.2661+5G>A , LRG_688t1:c.2661+5G>A | NP_714915.3:n.2661+5G>A | |
| NR_024522.1:n.2732+5G>A | ||
| XM_006716686.2:c.2358+5G>A | XP_006716749.1:n.2358+5G>A | |
| XM_006716687.2:c.2061+5G>A | XP_006716750.1:n.2061+5G>A | |
| XM_011517363.1:c.1779+5G>A | XP_011515665.1:n.1779+5G>A | |
| XR_428387.1:n.2719+5G>A | ||
| XR_928360.1:n.2719+5G>A | ||
| XR_928361.1:n.2719+5G>A | ||
| XR_928362.1:n.2719+5G>A | ||
| XM_006716686.4:c.2358+5G>A | XP_006716749.1:n.2358+5G>A | |
| XM_011517363.3:c.1779+5G>A | XP_011515665.1:n.1779+5G>A | |
| XM_024447326.1:c.2007+5G>A | XP_024303094.1:n.2007+5G>A | |
| XR_001745619.2:n.2702+5G>A | ||
| XR_428387.2:n.2702+5G>A | ||
| XR_928360.3:n.2702+5G>A | ||
| XR_928362.3:n.2702+5G>A | ||
| NM_153704.6:c.2661+5G>A MANE Select | NP_714915.3:n.2661+5G>A | |
| NR_024522.2:n.2682+5G>A |