Linked Data
ClinVar Variation Id:
235520
dbSNP Id:
rs147216997
ExAC:
19:42880062 C / T
gnomAD v2:
19-42880062-C-T
gnomAD v3:
19-42375910-C-T
gnomAD v4:
19-42375910-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42375910C>T , CM000681.2:g.42375910C>T | GRCh38 |
| NC_000019.9:g.42880062C>T , CM000681.1:g.42880062C>T | GRCh37 |
| NC_000019.8:g.47571902C>T | NCBI36 |
| NG_033030.1:g.55302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251268.11:c.7673C>T MANE Select | ENSP00000251268.5:p.Pro2558Leu | |
| ENST00000251268.10:c.7673C>T | ENSP00000251268.5:p.Pro2558Leu | |
| ENST00000334370.8:c.7472C>T | ENSP00000334219.4:p.Pro2491Leu | |
| ENST00000378073.5:c.455C>T | ENSP00000367313.4:p.Pro152Leu | |
| ENST00000593647.1:c.799C>T | ENSP00000470620.1:n.799C>T | |
| ENST00000598762.1:c.162-2790C>T | ||
| ENST00000599787.1:n.608C>T | ||
| NM_001271938.1:c.7673C>T | NP_001258867.1:p.Pro2558Leu | |
| NM_001410.2:c.7472C>T | NP_001401.2:p.Pro2491Leu | |
| NM_001271938.2:c.7673C>T MANE Select | NP_001258867.1:p.Pro2558Leu | |
| NM_001410.3:c.7472C>T | NP_001401.2:p.Pro2491Leu |