Linked Data
ClinVar Variation Id:
568865
dbSNP Id:
rs1228556317
gnomAD v3:
19-1401298-T-C
gnomAD v4:
19-1401298-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401298T>C , CM000681.2:g.1401298T>C | GRCh38 |
| NC_000019.9:g.1401297T>C , CM000681.1:g.1401297T>C | GRCh37 |
| NC_000019.8:g.1352297T>C | NCBI36 |
| NG_009785.1:g.5256A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.179A>G MANE Select | ENSP00000252288.1:p.Lys60Arg | |
| ENST00000447102.8:c.179A>G | ENSP00000403536.2:p.Lys60Arg | |
| ENST00000640762.1:c.112+67A>G | ENSP00000492031.1:n.112+67A>G | |
| ENST00000252288.6:c.179A>G | ENSP00000252288.1:p.Lys60Arg | |
| ENST00000447102.7:c.179A>G | ENSP00000403536.2:p.Lys60Arg | |
| NM_000156.5:c.179A>G | NP_000147.1:p.Lys60Arg | |
| NM_138924.2:c.179A>G | NP_620279.1:p.Lys60Arg | |
| NM_000156.6:c.179A>G MANE Select | NP_000147.1:p.Lys60Arg | |
| NM_138924.3:c.179A>G | NP_620279.1:p.Lys60Arg |