Linked Data
dbSNP Id:
rs10483724
gnomAD v2:
14-60931366-C-T
gnomAD v3:
14-60464648-C-T
gnomAD v4:
14-60464648-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60464648C>T , CM000676.2:g.60464648C>T | GRCh38 |
| NC_000014.8:g.60931366C>T , CM000676.1:g.60931366C>T | GRCh37 |
| NC_000014.7:g.60001119C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321731.8:c.972+1331G>A MANE Select | ENSP00000324920.3:n.972+1331G>A | |
| ENST00000321731.7:c.972+1331G>A | ENSP00000324920.3:n.972+1331G>A | |
| ENST00000557138.5:c.*286+1331G>A | ENSP00000450476.1:n.*286+1331G>A | |
| NM_174978.2:c.972+1331G>A | NP_777638.2:n.972+1331G>A | |
| XM_011536689.1:c.1077+1331G>A | XP_011534991.1:n.1077+1331G>A | |
| XM_011536690.1:c.1080+1331G>A | XP_011534992.1:n.1080+1331G>A | |
| XM_011536691.1:c.1080+1331G>A | XP_011534993.1:n.1080+1331G>A | |
| XM_011536692.1:c.1080+1331G>A | XP_011534994.1:n.1080+1331G>A | |
| XM_011536693.1:c.972+1331G>A | XP_011534995.1:n.972+1331G>A | |
| XM_011536694.1:c.1080+1331G>A | XP_011534996.1:n.1080+1331G>A | |
| XM_011536695.1:c.1080+1331G>A | XP_011534997.1:n.1080+1331G>A | |
| XM_011536696.1:c.1080+1331G>A | XP_011534998.1:n.1080+1331G>A | |
| XM_011536697.1:c.1080+1331G>A | XP_011534999.1:n.1080+1331G>A | |
| XM_011536698.1:c.885+1331G>A | XP_011535000.1:n.885+1331G>A | |
| XM_011536699.1:c.696+1331G>A | XP_011535001.1:n.696+1331G>A | |
| XM_011536700.1:c.645+1331G>A | XP_011535002.1:n.645+1331G>A | |
| XM_011536701.1:c.645+1331G>A | XP_011535003.1:n.645+1331G>A | |
| XM_011536702.1:c.1080+1331G>A | XP_011535004.1:n.1080+1331G>A | |
| XM_011536703.1:c.1080+1331G>A | XP_011535005.1:n.1080+1331G>A | |
| XM_011536704.1:c.1080+1331G>A | XP_011535006.1:n.1080+1331G>A | |
| XR_943417.1:n.1213+1331G>A | ||
| XM_011536690.3:c.1080+1331G>A | XP_011534992.1:n.1080+1331G>A | |
| XM_011536703.2:c.1080+1331G>A | XP_011535005.1:n.1080+1331G>A | |
| XM_017021247.1:c.1077+1331G>A | XP_016876736.1:n.1077+1331G>A | |
| XM_017021248.2:c.885+1331G>A | XP_016876737.1:n.885+1331G>A | |
| XM_017021249.2:c.696+1331G>A | XP_016876738.1:n.696+1331G>A | |
| XM_017021250.2:c.645+1331G>A | XP_016876739.1:n.645+1331G>A | |
| XM_017021251.1:c.645+1331G>A | XP_016876740.1:n.645+1331G>A | |
| XM_024449555.1:c.969+1331G>A | XP_024305323.1:n.969+1331G>A | |
| NM_174978.3:c.972+1331G>A MANE Select | NP_777638.3:n.972+1331G>A |