Linked Data
ClinVar Variation Id:
137789
ClinVar RCV Id:
RCV000125788
RCV000488383
RCV000852861
RCV001084338
RCV001131531
RCV001131532
RCV001131533
RCV001131534
RCV001131535
RCV001798422
RCV004532508
dbSNP Id:
rs373636988
ExAC:
2:179500975 A / T
gnomAD v2:
2-179500975-A-T
gnomAD v3:
2-178636248-A-T
gnomAD v4:
2-178636248-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178636248A>T , CM000664.2:g.178636248A>T | GRCh38 |
| NC_000002.11:g.179500975A>T , CM000664.1:g.179500975A>T | GRCh37 |
| NC_000002.10:g.179209220A>T | NCBI36 |
| NG_011618.3:g.199555T>A , LRG_391:g.199555T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33626-7T>A | ENSP00000343764.6:n.33626-7T>A | |
| ENST00000342175.11:c.14711-7T>A | ENSP00000340554.6:n.14711-7T>A | |
| ENST00000359218.10:c.14510-7T>A | ENSP00000352154.5:n.14510-7T>A | |
| ENST00000342175.10:c.14711-7T>A | ENSP00000340554.6:n.14711-7T>A | |
| ENST00000342992.10:c.33626-7T>A | ENSP00000343764.6:n.33626-7T>A | |
| ENST00000359218.9:c.14510-7T>A | ENSP00000352154.5:n.14510-7T>A | |
| ENST00000460472.6:c.14135-7T>A | ENSP00000434586.1:n.14135-7T>A | |
| ENST00000589042.5:c.41330-7T>A MANE Select | ENSP00000467141.1:n.41330-7T>A | |
| ENST00000591111.5:c.36407-7T>A | ENSP00000465570.1:n.36407-7T>A | |
| ENST00000615779.4:c.36407-7T>A | ENSP00000483597.1:n.36407-7T>A | |
| NM_001256850.1:c.36407-7T>A | NP_001243779.1:n.36407-7T>A | |
| NM_001267550.2:c.41330-7T>A MANE Select | NP_001254479.2:n.41330-7T>A | |
| NM_003319.4:c.14135-7T>A | NP_003310.4:n.14135-7T>A | |
| NM_133378.4:c.33626-7T>A | NP_596869.4:n.33626-7T>A | |
| NM_133432.3:c.14510-7T>A | NP_597676.3:n.14510-7T>A | |
| NM_133437.4:c.14711-7T>A | NP_597681.4:n.14711-7T>A | |
| XM_011511729.1:c.40427-7T>A | XP_011510031.1:n.40427-7T>A | |
| XM_011511730.1:c.14321-7T>A | XP_011510032.1:n.14321-7T>A | |
| XM_011511731.1:c.14180-7T>A | XP_011510033.1:n.14180-7T>A | |
| XM_017004819.1:c.40223-7T>A | XP_016860308.1:n.40223-7T>A | |
| XM_017004820.1:c.35621-7T>A | XP_016860309.1:n.35621-7T>A | |
| XM_017004821.1:c.35618-7T>A | XP_016860310.1:n.35618-7T>A | |
| XM_017004822.1:c.32660-7T>A | XP_016860311.1:n.32660-7T>A | |
| XM_017004823.1:c.14276-7T>A | XP_016860312.1:n.14276-7T>A | |
| XM_024453094.1:c.35771-7T>A | XP_024308862.1:n.35771-7T>A | |
| XM_024453095.1:c.35768-7T>A | XP_024308863.1:n.35768-7T>A | |
| XM_024453096.1:c.35201-7T>A | XP_024308864.1:n.35201-7T>A | |
| XM_024453097.1:c.32543-7T>A | XP_024308865.1:n.32543-7T>A | |
| XM_024453098.1:c.32462-7T>A | XP_024308866.1:n.32462-7T>A | |
| XM_024453099.1:c.14225-7T>A | XP_024308867.1:n.14225-7T>A | |
| XM_024453100.1:c.4079-7T>A | XP_024308868.1:n.4079-7T>A |