Linked Data
ClinVar Variation Id:
55945
ClinVar RCV Id:
RCV000049354
dbSNP Id:
rs386833426
gnomAD v2:
4-178360019-T-C
gnomAD v3:
4-177438865-T-C
gnomAD v4:
4-177438865-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177438865T>C , CM000666.2:g.177438865T>C | GRCh38 |
| NC_000004.11:g.178360019T>C , CM000666.1:g.178360019T>C | GRCh37 |
| NC_000004.10:g.178597013T>C | NCBI36 |
| NG_011845.2:g.8639A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.395-8A>G MANE Select | ENSP00000264595.2:n.395-8A>G | |
| ENST00000264595.6:c.395-8A>G | ENSP00000264595.2:n.395-8A>G | |
| ENST00000502310.5:c.50-8A>G | ENSP00000423798.1:n.50-8A>G | |
| ENST00000506853.5:n.429-8A>G | ||
| ENST00000510635.1:c.91-8A>G | ||
| ENST00000510955.5:n.316-8A>G | ||
| NM_000027.3:c.395-8A>G | NP_000018.2:n.395-8A>G | |
| NM_001171988.1:c.395-8A>G | NP_001165459.1:n.395-8A>G | |
| NR_033655.1:n.523-8A>G | ||
| XM_006714123.2:c.395-8A>G | XP_006714186.1:n.395-8A>G | |
| XR_001741155.2:n.489-8A>G | ||
| NM_000027.4:c.395-8A>G MANE Select | NP_000018.2:n.395-8A>G | |
| NM_001171988.2:c.395-8A>G | NP_001165459.1:n.395-8A>G | |
| NR_033655.2:n.457-8A>G |