Linked Data
ClinVar Variation Id:
2515613
ClinVar RCV Id:
RCV003252251
dbSNP Id:
rs145570510
ExAC:
20:56140574 C / T
gnomAD v2:
20-56140574-C-T
gnomAD v3:
20-57565518-C-T
gnomAD v4:
20-57565518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565518C>T , CM000682.2:g.57565518C>T | GRCh38 |
| NC_000020.10:g.56140574C>T , CM000682.1:g.56140574C>T | GRCh37 |
| NC_000020.9:g.55573980C>T | NCBI36 |
| NG_008205.1:g.9438C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1583C>T MANE Select | ENSP00000319814.4:p.Pro528Leu | |
| ENST00000319441.5:c.1583C>T | ENSP00000319814.4:p.Pro528Leu | |
| ENST00000467047.1:n.4225C>T | ||
| NM_002591.3:c.1583C>T | NP_002582.3:p.Pro528Leu | |
| XM_011528839.1:c.1187C>T | XP_011527141.1:p.Pro396Leu | |
| XM_024451888.1:c.1187C>T | XP_024307656.1:p.Pro396Leu | |
| NM_002591.4:c.1583C>T MANE Select | NP_002582.3:p.Pro528Leu |