Linked Data
ClinVar Variation Id:
2214016
ClinVar RCV Id:
RCV002672555
dbSNP Id:
rs370250682
ExAC:
15:45695517 C / T
gnomAD v2:
15-45695517-C-T
gnomAD v3:
15-45403319-C-T
gnomAD v4:
15-45403319-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45403319C>T , CM000677.2:g.45403319C>T | GRCh38 |
| NC_000015.9:g.45695517C>T , CM000677.1:g.45695517C>T | GRCh37 |
| NC_000015.8:g.43482809C>T | NCBI36 |
| NG_011674.2:g.3999G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305560.11:c.890C>T MANE Select | ENSP00000305494.6:p.Pro297Leu | |
| ENST00000305560.10:c.890C>T | ENSP00000305494.6:p.Pro297Leu | |
| ENST00000531970.5:c.890C>T | ENSP00000436823.1:p.Pro297Leu | |
| ENST00000559860.2:n.950C>T | ||
| NM_024063.2:c.890C>T | NP_076968.2:p.Pro297Leu | |
| NR_027635.1:n.999C>T | ||
| XM_005254657.3:c.890C>T | XP_005254714.1:p.Pro297Leu | |
| XR_243126.3:n.1047C>T | ||
| NM_001323640.1:c.890C>T | NP_001310569.1:p.Pro297Leu | |
| NR_136645.1:n.999C>T | ||
| NR_136646.1:n.999C>T | ||
| NR_136647.1:n.999C>T | ||
| NR_136648.1:n.999C>T | ||
| XR_001751383.2:n.932C>T | ||
| NM_024063.3:c.890C>T MANE Select | NP_076968.2:p.Pro297Leu | |
| NR_027635.2:n.984C>T | ||
| NR_136645.2:n.984C>T | ||
| NR_136646.2:n.984C>T | ||
| NR_136647.2:n.984C>T | ||
| NR_136648.2:n.984C>T | ||
| NM_001323640.2:c.890C>T | NP_001310569.1:p.Pro297Leu |