Linked Data
ClinVar Variation Id:
1380919
ClinVar RCV Id:
RCV001921831
dbSNP Id:
rs1324189699
gnomAD v2:
9-6558563-G-C
gnomAD v3:
9-6558563-G-C
gnomAD v4:
9-6558563-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558563G>C , CM000671.2:g.6558563G>C | GRCh38 |
| NC_000009.11:g.6558563G>C , CM000671.1:g.6558563G>C | GRCh37 |
| NC_000009.10:g.6548563G>C | NCBI36 |
| NG_016397.1:g.92130C>G , LRG_643:g.92130C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2048C>G MANE Select | ENSP00000370737.4:p.Ala683Gly | |
| ENST00000460457.2:n.208C>G | ||
| ENST00000638233.1:n.483C>G | ||
| ENST00000638661.1:c.248C>G | ENSP00000491369.1:p.Ala83Gly | |
| ENST00000638694.1:n.235C>G | ||
| ENST00000639318.1:c.248C>G | ENSP00000491932.1:p.Ala83Gly | |
| ENST00000639364.1:n.1748C>G | ||
| ENST00000639443.1:n.1616C>G | ||
| ENST00000639954.1:n.1756C>G | ||
| ENST00000640208.1:c.248C>G | ENSP00000491895.1:p.Ala83Gly | |
| ENST00000640505.1:n.287C>G | ||
| ENST00000640592.1:n.1931C>G | ||
| ENST00000321612.6:c.2048C>G | ENSP00000370737.3:p.Ala683Gly | |
| ENST00000460457.1:n.187C>G | ||
| NM_000170.2:c.2048C>G , LRG_643t1:c.2048C>G | NP_000161.2:p.Ala683Gly | |
| NM_000170.3:c.2048C>G MANE Select | NP_000161.2:p.Ala683Gly |