Linked Data
ClinVar Variation Id:
773046
ClinVar RCV Id:
RCV000952735
dbSNP Id:
rs2577956
ExAC:
15:42049978 T / C
gnomAD v2:
15-42049978-T-C
gnomAD v3:
15-41757780-T-C
gnomAD v4:
15-41757780-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41757780T>C , CM000677.2:g.41757780T>C | GRCh38 |
| NC_000015.9:g.42049978T>C , CM000677.1:g.42049978T>C | GRCh37 |
| NC_000015.8:g.39837270T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703841.1:c.7287-8T>C MANE Select | ENSP00000515495.1:n.7287-8T>C | |
| ENST00000703843.1:c.3293-8T>C | ENSP00000515497.1:n.3293-8T>C | |
| ENST00000219905.13:c.7140-8T>C | ENSP00000219905.7:n.7140-8T>C | |
| ENST00000545763.6:c.*2948-8T>C | ENSP00000442467.2:n.*2948-8T>C | |
| ENST00000566586.6:c.6513-8T>C | ENSP00000456141.1:n.6513-8T>C | |
| ENST00000570161.6:c.7287-8T>C | ENSP00000457035.2:n.7287-8T>C | |
| ENST00000219905.11:c.7140-8T>C | ENSP00000219905.7:n.7140-8T>C | |
| ENST00000545763.5:c.6513-8T>C | ENSP00000442467.1:n.6513-8T>C | |
| ENST00000564190.1:c.3082-8T>C | ||
| ENST00000566586.5:c.6513-8T>C | ENSP00000456141.1:n.6513-8T>C | |
| ENST00000570161.5:c.7140-8T>C | ENSP00000457035.1:n.7140-8T>C | |
| NM_001080541.2:c.6513-8T>C | NP_001074010.2:n.6513-8T>C | |
| NM_001164273.1:c.7140-8T>C | NP_001157745.1:n.7140-8T>C | |
| XM_005254243.1:c.7290-8T>C | XP_005254300.1:n.7290-8T>C | |
| XM_005254244.2:c.7290-8T>C | XP_005254301.1:n.7290-8T>C | |
| XM_005254245.3:c.7290-8T>C | XP_005254302.1:n.7290-8T>C | |
| XM_005254246.1:c.7290-8T>C | XP_005254303.1:n.7290-8T>C | |
| XM_005254247.1:c.7290-8T>C | XP_005254304.1:n.7290-8T>C | |
| XM_005254248.1:c.7287-8T>C | XP_005254305.1:n.7287-8T>C | |
| XM_005254249.1:c.7143-8T>C | XP_005254306.1:n.7143-8T>C | |
| XM_005254252.1:c.6813-8T>C | XP_005254309.1:n.6813-8T>C | |
| XM_005254253.1:c.6663-8T>C | XP_005254310.1:n.6663-8T>C | |
| XM_005254254.2:c.2826-8T>C | XP_005254311.1:n.2826-8T>C | |
| XM_006720443.2:c.7290-8T>C | XP_006720506.1:n.7290-8T>C | |
| XM_006720444.2:c.6234-8T>C | XP_006720507.1:n.6234-8T>C | |
| XM_006720445.2:c.5919-8T>C | XP_006720508.1:n.5919-8T>C | |
| XM_011521397.1:c.6960-8T>C | XP_011519699.1:n.6960-8T>C | |
| XM_011521398.1:c.6957-8T>C | XP_011519700.1:n.6957-8T>C | |
| XM_011521399.1:c.2637-8T>C | XP_011519701.1:n.2637-8T>C | |
| XM_011521400.1:c.2637-8T>C | XP_011519702.1:n.2637-8T>C | |
| XM_005254243.3:c.7290-8T>C | XP_005254300.1:n.7290-8T>C | |
| XM_005254244.4:c.7290-8T>C | XP_005254301.1:n.7290-8T>C | |
| XM_005254245.5:c.7290-8T>C | XP_005254302.1:n.7290-8T>C | |
| XM_005254246.3:c.7290-8T>C | XP_005254303.1:n.7290-8T>C | |
| XM_005254247.3:c.7290-8T>C | XP_005254304.1:n.7290-8T>C | |
| XM_005254248.3:c.7287-8T>C | XP_005254305.1:n.7287-8T>C | |
| XM_005254249.3:c.7143-8T>C | XP_005254306.1:n.7143-8T>C | |
| XM_005254252.3:c.6813-8T>C | XP_005254309.1:n.6813-8T>C | |
| XM_005254253.3:c.6663-8T>C | XP_005254310.1:n.6663-8T>C | |
| XM_005254254.4:c.2826-8T>C | XP_005254311.1:n.2826-8T>C | |
| XM_006720443.4:c.7290-8T>C | XP_006720506.1:n.7290-8T>C | |
| XM_006720445.4:c.5919-8T>C | XP_006720508.1:n.5919-8T>C | |
| XM_011521397.3:c.6960-8T>C | XP_011519699.1:n.6960-8T>C | |
| XM_011521398.3:c.6957-8T>C | XP_011519700.1:n.6957-8T>C | |
| XM_011521399.3:c.2637-8T>C | XP_011519701.1:n.2637-8T>C | |
| XM_011521400.3:c.2637-8T>C | XP_011519702.1:n.2637-8T>C | |
| XM_017022028.2:c.5919-8T>C | XP_016877517.1:n.5919-8T>C | |
| XM_017022029.2:c.5919-8T>C | XP_016877518.1:n.5919-8T>C | |
| XM_017022030.2:c.4566-8T>C | XP_016877519.1:n.4566-8T>C | |
| XM_017022031.2:c.2634-8T>C | XP_016877520.1:n.2634-8T>C | |
| XM_017022032.2:c.2634-8T>C | XP_016877521.1:n.2634-8T>C | |
| NM_001080541.3:c.6513-8T>C | NP_001074010.2:n.6513-8T>C | |
| NM_001164273.2:c.7140-8T>C | NP_001157745.1:n.7140-8T>C | |
| NM_001400225.1:c.7287-8T>C MANE Select | NP_001387154.1:n.7287-8T>C | |
| NM_001400242.1:c.4236-8T>C | NP_001387171.1:n.4236-8T>C |