Linked Data
ClinVar Variation Id:
315324
ClinVar RCV Id:
RCV002056444
dbSNP Id:
rs886050983
gnomAD v2:
15-100881624-G-C
gnomAD v3:
15-100341419-G-C
gnomAD v4:
15-100341419-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100341419G>C , CM000677.2:g.100341419G>C | GRCh38 |
| NC_000015.9:g.100881624G>C , CM000677.1:g.100881624G>C | GRCh37 |
| NC_000015.8:g.98699147G>C | NCBI36 |
| NG_016287.1:g.5560C>G | |
| NG_016287.2:g.5560C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268070.9:c.80-10C>G MANE Select | ENSP00000268070.4:n.80-10C>G | |
| ENST00000568565.2:c.80-10C>G | ENSP00000456161.2:n.80-10C>G | |
| ENST00000268070.8:c.80-10C>G | ENSP00000268070.4:n.80-10C>G | |
| ENST00000558960.1:c.79+402C>G | ENSP00000453604.1:n.79+402C>G | |
| NM_139057.2:c.80-10C>G | NP_620688.2:n.80-10C>G | |
| XM_005254872.2:c.80-10C>G | XP_005254929.1:n.80-10C>G | |
| XM_011521312.1:c.80-10C>G | XP_011519614.1:n.80-10C>G | |
| NM_139057.3:c.80-10C>G | NP_620688.2:n.80-10C>G | |
| XM_005254872.3:c.80-10C>G | XP_005254929.1:n.80-10C>G | |
| XM_011521312.2:c.80-10C>G | XP_011519614.1:n.80-10C>G | |
| XM_017021973.2:c.80-10C>G | XP_016877462.1:n.80-10C>G | |
| XM_017021974.1:c.80-10C>G | XP_016877463.1:n.80-10C>G | |
| XM_017021975.1:c.80-10C>G | XP_016877464.1:n.80-10C>G | |
| XM_017021976.1:c.-280+402C>G | XP_016877465.1:n.-280+402C>G | |
| XM_017021977.1:c.80-10C>G | XP_016877466.1:n.80-10C>G | |
| XM_017021981.1:c.80-10C>G | XP_016877470.1:n.80-10C>G | |
| XR_001751118.1:n.1102-10C>G | ||
| XR_001751119.1:n.1102-10C>G | ||
| XR_001751120.1:n.1102-10C>G | ||
| NM_139057.4:c.80-10C>G MANE Select | NP_620688.2:n.80-10C>G |