Linked Data
ClinVar Variation Id:
96680
ClinVar RCV Id:
RCV000082847
RCV001103652
RCV001573759
RCV002055235
RCV002259571
RCV002259572
RCV002259573
dbSNP Id:
rs76850415
ExAC:
11:22301077 A / G
gnomAD v2:
11-22301077-A-G
gnomAD v3:
11-22279531-A-G
gnomAD v4:
11-22279531-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22279531A>G , CM000673.2:g.22279531A>G | GRCh38 |
| NC_000011.9:g.22301077A>G , CM000673.1:g.22301077A>G | GRCh37 |
| NC_000011.8:g.22257653A>G | NCBI36 |
| NG_015844.1:g.91356A>G , LRG_868:g.91356A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.2071-13A>G | ENSP00000507766.1:n.2071-13A>G | |
| ENST00000682341.1:c.2479-13A>G | ENSP00000508251.1:n.2479-13A>G | |
| ENST00000683197.1:c.2373-13A>G | ENSP00000507641.1:n.2373-13A>G | |
| ENST00000683411.1:c.2071-13A>G | ENSP00000508397.1:n.2071-13A>G | |
| ENST00000683437.1:c.2071-13A>G | ENSP00000508408.1:n.2071-13A>G | |
| ENST00000683613.1:n.3515-13A>G | ||
| ENST00000684663.1:c.2476-13A>G | ENSP00000508009.1:n.2476-13A>G | |
| ENST00000324559.9:c.2521-13A>G MANE Select | ENSP00000315371.9:n.2521-13A>G | |
| ENST00000648804.1:n.2856-13A>G | ||
| ENST00000324559.8:c.2521-13A>G | ENSP00000315371.8:n.2521-13A>G | |
| NM_001142649.1:c.2518-13A>G | NP_001136121.1:n.2518-13A>G | |
| NM_213599.2:c.2521-13A>G , LRG_868t1:c.2521-13A>G | NP_998764.1:n.2521-13A>G | |
| XM_005252820.2:c.2479-13A>G | XP_005252877.2:n.2479-13A>G | |
| XM_005252821.2:c.2476-13A>G | XP_005252878.2:n.2476-13A>G | |
| XM_005252822.3:c.2443-13A>G | XP_005252879.1:n.2443-13A>G | |
| XM_005252823.3:c.2440-13A>G | XP_005252880.1:n.2440-13A>G | |
| XM_011519949.1:c.2428-13A>G | XP_011518251.1:n.2428-13A>G | |
| XM_005252820.3:c.2479-13A>G | XP_005252877.2:n.2479-13A>G | |
| XM_005252821.3:c.2476-13A>G | XP_005252878.2:n.2476-13A>G | |
| XM_005252822.4:c.2443-13A>G | XP_005252879.1:n.2443-13A>G | |
| XM_011519949.2:c.2428-13A>G | XP_011518251.1:n.2428-13A>G | |
| NM_001142649.2:c.2518-13A>G | NP_001136121.1:n.2518-13A>G | |
| NM_213599.3:c.2521-13A>G MANE Select | NP_998764.1:n.2521-13A>G |