Linked Data
ClinVar Variation Id:
367184
dbSNP Id:
rs41281773
ExAC:
9:6558693 T / C
gnomAD v2:
9-6558693-T-C
gnomAD v3:
9-6558693-T-C
gnomAD v4:
9-6558693-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558693T>C , CM000671.2:g.6558693T>C | GRCh38 |
| NC_000009.11:g.6558693T>C , CM000671.1:g.6558693T>C | GRCh37 |
| NC_000009.10:g.6548693T>C | NCBI36 |
| NG_016397.1:g.92000A>G , LRG_643:g.92000A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1927-9A>G MANE Select | ENSP00000370737.4:n.1927-9A>G | |
| ENST00000460457.2:n.87-9A>G | ||
| ENST00000638233.1:n.362-9A>G | ||
| ENST00000638661.1:c.127-9A>G | ENSP00000491369.1:n.127-9A>G | |
| ENST00000638694.1:n.114-9A>G | ||
| ENST00000639318.1:c.127-9A>G | ENSP00000491932.1:n.127-9A>G | |
| ENST00000639364.1:n.1627-9A>G | ||
| ENST00000639443.1:n.1495-9A>G | ||
| ENST00000639954.1:n.1635-9A>G | ||
| ENST00000640208.1:c.127-9A>G | ENSP00000491895.1:n.127-9A>G | |
| ENST00000640505.1:n.166-9A>G | ||
| ENST00000640592.1:n.1810-9A>G | ||
| ENST00000321612.6:c.1927-9A>G | ENSP00000370737.3:n.1927-9A>G | |
| ENST00000460457.1:n.66-9A>G | ||
| NM_000170.2:c.1927-9A>G , LRG_643t1:c.1927-9A>G | NP_000161.2:n.1927-9A>G | |
| NM_000170.3:c.1927-9A>G MANE Select | NP_000161.2:n.1927-9A>G |