Linked Data
ClinVar Variation Id:
2961649
ClinVar RCV Id:
RCV003822295
dbSNP Id:
rs568976724
ExAC:
15:100589203 A / T
gnomAD v2:
15-100589203-A-T
gnomAD v3:
15-100048998-A-T
gnomAD v4:
15-100048998-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100048998A>T , CM000677.2:g.100048998A>T | GRCh38 |
| NC_000015.9:g.100589203A>T , CM000677.1:g.100589203A>T | GRCh37 |
| NC_000015.8:g.98406726A>T | NCBI36 |
| NG_016287.1:g.297981T>A | |
| NG_016287.2:g.297981T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268070.9:c.2456-6T>A MANE Select | ENSP00000268070.4:n.2456-6T>A | |
| ENST00000568565.2:c.2537-6T>A | ENSP00000456161.2:n.2537-6T>A | |
| ENST00000268070.8:c.2456-6T>A | ENSP00000268070.4:n.2456-6T>A | |
| NM_139057.2:c.2456-6T>A | NP_620688.2:n.2456-6T>A | |
| XM_005254872.2:c.2537-6T>A | XP_005254929.1:n.2537-6T>A | |
| XM_011521312.1:c.2606-6T>A | XP_011519614.1:n.2606-6T>A | |
| NM_139057.3:c.2456-6T>A | NP_620688.2:n.2456-6T>A | |
| XM_005254872.3:c.2537-6T>A | XP_005254929.1:n.2537-6T>A | |
| XM_011521312.2:c.2606-6T>A | XP_011519614.1:n.2606-6T>A | |
| XM_017021973.2:c.2738-6T>A | XP_016877462.1:n.2738-6T>A | |
| XM_017021974.1:c.2738-6T>A | XP_016877463.1:n.2738-6T>A | |
| XM_017021975.1:c.2669-6T>A | XP_016877464.1:n.2669-6T>A | |
| XM_017021976.1:c.2009-6T>A | XP_016877465.1:n.2009-6T>A | |
| XM_017021978.1:c.1640-6T>A | XP_016877467.1:n.1640-6T>A | |
| XM_017021979.1:c.1418-6T>A | XP_016877468.1:n.1418-6T>A | |
| XM_017021980.1:c.1418-6T>A | XP_016877469.1:n.1418-6T>A | |
| XM_017021982.1:c.1127-6T>A | XP_016877471.1:n.1127-6T>A | |
| XM_017021983.1:c.911-6T>A | XP_016877472.1:n.911-6T>A | |
| NM_139057.4:c.2456-6T>A MANE Select | NP_620688.2:n.2456-6T>A |