Linked Data
ClinVar Variation Id:
2570638
ClinVar RCV Id:
RCV003307397
dbSNP Id:
rs2082607260
gnomAD v4:
19-1397480-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1397480A>G , CM000681.2:g.1397480A>G | GRCh38 |
| NC_000019.9:g.1397479A>G , CM000681.1:g.1397479A>G | GRCh37 |
| NC_000019.8:g.1348479A>G | NCBI36 |
| NG_008283.1:g.18597A>G | |
| NG_009785.1:g.9074T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.590T>C MANE Select | ENSP00000252288.1:p.Leu197Pro | |
| ENST00000640164.1:n.423T>C | ||
| ENST00000640762.1:c.521T>C | ENSP00000492031.1:p.Leu174Pro | |
| ENST00000252288.6:c.590T>C | ENSP00000252288.1:p.Leu197Pro | |
| NM_000156.5:c.590T>C | NP_000147.1:p.Leu197Pro | |
| NM_000156.6:c.590T>C MANE Select | NP_000147.1:p.Leu197Pro |