Linked Data
ClinVar Variation Id:
1637745
ClinVar RCV Id:
RCV002137896
dbSNP Id:
rs1817682144
gnomAD v4:
9-6558543-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558543A>C , CM000671.2:g.6558543A>C | GRCh38 |
| NC_000009.11:g.6558543A>C , CM000671.1:g.6558543A>C | GRCh37 |
| NC_000009.10:g.6548543A>C | NCBI36 |
| NG_016397.1:g.92150T>G , LRG_643:g.92150T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2052+16T>G MANE Select | ENSP00000370737.4:n.2052+16T>G | |
| ENST00000460457.2:n.212+16T>G | ||
| ENST00000638233.1:n.487+16T>G | ||
| ENST00000638661.1:c.252+16T>G | ENSP00000491369.1:n.252+16T>G | |
| ENST00000638694.1:n.239+16T>G | ||
| ENST00000639318.1:c.252+16T>G | ENSP00000491932.1:n.252+16T>G | |
| ENST00000639364.1:n.1752+16T>G | ||
| ENST00000639443.1:n.1620+16T>G | ||
| ENST00000639954.1:n.1760+16T>G | ||
| ENST00000640208.1:c.268T>G | ENSP00000491895.1:p.Leu90Val | |
| ENST00000640505.1:n.291+16T>G | ||
| ENST00000640592.1:n.1951T>G | ||
| ENST00000321612.6:c.2052+16T>G | ENSP00000370737.3:n.2052+16T>G | |
| ENST00000460457.1:n.207T>G | ||
| NM_000170.2:c.2052+16T>G , LRG_643t1:c.2052+16T>G | NP_000161.2:n.2052+16T>G | |
| NM_000170.3:c.2052+16T>G MANE Select | NP_000161.2:n.2052+16T>G |