Linked Data
ClinVar Variation Id:
190893
dbSNP Id:
rs758764353
ExAC:
11:118014794 T / C
gnomAD v2:
11-118014794-T-C
gnomAD v3:
11-118144079-T-C
gnomAD v4:
11-118144079-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118144079T>C , CM000673.2:g.118144079T>C | GRCh38 |
| NC_000011.9:g.118014794T>C , CM000673.1:g.118014794T>C | GRCh37 |
| NC_000011.8:g.117520004T>C | NCBI36 |
| NG_011710.1:g.13837A>G , LRG_330:g.13837A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.235-18A>G MANE Select | ENSP00000322460.4:n.235-18A>G | |
| ENST00000324727.8:c.235-18A>G | ENSP00000322460.4:n.235-18A>G | |
| ENST00000415030.6:n.378-18A>G | ||
| ENST00000529878.1:c.62-2743A>G | ENSP00000436343.1:n.62-2743A>G | |
| ENST00000532138.1:n.645-18A>G | ||
| NM_001142348.1:c.62-2743A>G | NP_001135820.1:n.62-2743A>G | |
| NM_001142349.1:c.-96-18A>G | NP_001135821.1:n.-96-18A>G | |
| NM_174934.3:c.235-18A>G , LRG_330t1:c.235-18A>G | NP_777594.1:n.235-18A>G | |
| NR_024527.1:n.414-18A>G | ||
| NM_001142348.2:c.62-2743A>G | NP_001135820.1:n.62-2743A>G | |
| NM_001142349.2:c.-96-18A>G | NP_001135821.1:n.-96-18A>G | |
| NR_024527.2:n.378-18A>G | ||
| NM_174934.4:c.235-18A>G MANE Select | NP_777594.1:n.235-18A>G |