Linked Data
ClinVar Variation Id:
2296915
ClinVar RCV Id:
RCV002877839
dbSNP Id:
rs781947747
ExAC:
10:48389097 G / A
gnomAD v2:
10-48389097-G-A
gnomAD v3:
10-47350265-C-T
gnomAD v4:
10-47350265-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350265C>T , CM000672.2:g.47350265C>T | GRCh38 |
| NC_000010.10:g.48389097G>A , CM000672.1:g.48389097G>A | GRCh37 |
| NC_000010.9:g.48009103G>A | NCBI36 |
| NG_029718.1:g.6895C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1781C>T MANE Select | ENSP00000463151.1:p.Pro594Leu | |
| ENST00000584701.1:c.1781C>T | ENSP00000463151.1:p.Pro594Leu | |
| NM_002900.2:c.1781C>T | NP_002891.1:p.Pro594Leu | |
| NM_002900.3:c.1781C>T MANE Select | NP_002891.1:p.Pro594Leu |