Linked Data
ClinVar Variation Id:
2149875
ClinVar RCV Id:
RCV003065705
dbSNP Id:
rs768943915
ExAC:
9:6558695 G / C
gnomAD v2:
9-6558695-G-C
gnomAD v3:
9-6558695-G-C
gnomAD v4:
9-6558695-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558695G>C , CM000671.2:g.6558695G>C | GRCh38 |
| NC_000009.11:g.6558695G>C , CM000671.1:g.6558695G>C | GRCh37 |
| NC_000009.10:g.6548695G>C | NCBI36 |
| NG_016397.1:g.91998C>G , LRG_643:g.91998C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1927-11C>G MANE Select | ENSP00000370737.4:n.1927-11C>G | |
| ENST00000460457.2:n.87-11C>G | ||
| ENST00000638233.1:n.362-11C>G | ||
| ENST00000638661.1:c.127-11C>G | ENSP00000491369.1:n.127-11C>G | |
| ENST00000638694.1:n.114-11C>G | ||
| ENST00000639318.1:c.127-11C>G | ENSP00000491932.1:n.127-11C>G | |
| ENST00000639364.1:n.1627-11C>G | ||
| ENST00000639443.1:n.1495-11C>G | ||
| ENST00000639954.1:n.1635-11C>G | ||
| ENST00000640208.1:c.127-11C>G | ENSP00000491895.1:n.127-11C>G | |
| ENST00000640505.1:n.166-11C>G | ||
| ENST00000640592.1:n.1810-11C>G | ||
| ENST00000321612.6:c.1927-11C>G | ENSP00000370737.3:n.1927-11C>G | |
| ENST00000460457.1:n.66-11C>G | ||
| NM_000170.2:c.1927-11C>G , LRG_643t1:c.1927-11C>G | NP_000161.2:n.1927-11C>G | |
| NM_000170.3:c.1927-11C>G MANE Select | NP_000161.2:n.1927-11C>G |