Linked Data
ClinVar Variation Id:
316029
dbSNP Id:
rs144428415
ExAC:
15:43512954 G / A
gnomAD v2:
15-43512954-G-A
gnomAD v3:
15-43220756-G-A
gnomAD v4:
15-43220756-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43220756G>A , CM000677.2:g.43220756G>A | GRCh38 |
| NC_000015.9:g.43512954G>A , CM000677.1:g.43512954G>A | GRCh37 |
| NC_000015.8:g.41300246G>A | NCBI36 |
| NG_011505.1:g.5370C>T | |
| NG_011505.2:g.10101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441366.7:c.10+60C>T MANE Select | ENSP00000396616.2:n.10+60C>T | |
| ENST00000648595.1:c.70C>T | ENSP00000497777.1:p.Pro24Ser | |
| ENST00000300215.7:c.70C>T | ENSP00000300215.3:p.Pro24Ser | |
| ENST00000441366.6:c.10+60C>T | ENSP00000396616.2:n.10+60C>T | |
| ENST00000540029.5:c.10+60C>T | ENSP00000444699.1:n.10+60C>T | |
| ENST00000622454.4:c.10+60C>T | ENSP00000481226.1:n.10+60C>T | |
| NM_000119.2:c.70C>T | NP_000110.2:p.Pro24Ser | |
| NM_001114134.1:c.10+60C>T | NP_001107606.1:n.10+60C>T | |
| XM_005254225.1:c.10+60C>T | XP_005254282.1:n.10+60C>T | |
| XM_011521349.1:c.70C>T | XP_011519651.1:p.Pro24Ser | |
| XM_011521350.1:c.70C>T | XP_011519652.1:p.Pro24Ser | |
| XM_011521351.1:c.70C>T | XP_011519653.1:p.Pro24Ser | |
| XM_011521352.1:c.70C>T | XP_011519654.1:p.Pro24Ser | |
| XM_011521353.1:c.70C>T | XP_011519655.1:p.Pro24Ser | |
| NM_000119.3:c.70C>T | NP_000110.2:p.Pro24Ser | |
| XM_011521349.2:c.70C>T | XP_011519651.1:p.Pro24Ser | |
| XM_011521350.2:c.70C>T | XP_011519652.1:p.Pro24Ser | |
| XM_011521351.2:c.70C>T | XP_011519653.1:p.Pro24Ser | |
| XM_011521352.2:c.70C>T | XP_011519654.1:p.Pro24Ser | |
| XM_011521353.2:c.70C>T | XP_011519655.1:p.Pro24Ser | |
| NM_001114134.2:c.10+60C>T MANE Select | NP_001107606.1:n.10+60C>T |