Linked Data
ClinVar Variation Id:
316206
ClinVar RCV Id:
RCV000346317
dbSNP Id:
rs1049503
gnomAD v2:
15-45653707-T-C
gnomAD v3:
15-45361509-T-C
gnomAD v4:
15-45361509-T-C
ERepo:
CA10647042/MONDO:0012996/025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45361509T>C , CM000677.2:g.45361509T>C | GRCh38 |
| NC_000015.9:g.45653707T>C , CM000677.1:g.45653707T>C | GRCh37 |
| NC_000015.8:g.43440999T>C | NCBI36 |
| NG_011674.1:g.22274A>G | |
| NG_011674.2:g.45809A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.*600A>G MANE Select | ENSP00000379895.3:n.*600A>G | |
| ENST00000675158.1:c.*772A>G | ENSP00000501737.1:n.*772A>G | |
| ENST00000675323.1:c.*2374A>G | ENSP00000502445.1:n.*2374A>G | |
| ENST00000676090.1:c.*2603A>G | ENSP00000501630.1:n.*2603A>G | |
| ENST00000396659.7:c.*600A>G | ENSP00000379895.3:n.*600A>G | |
| ENST00000558362.5:n.3528A>G | ||
| NM_001482.2:c.*600A>G | NP_001473.1:n.*600A>G | |
| XM_011521450.1:c.*600A>G | XP_011519752.1:n.*600A>G | |
| XM_011521451.1:c.*600A>G | XP_011519753.1:n.*600A>G | |
| NM_001321015.1:c.*600A>G | NP_001307944.1:n.*600A>G | |
| NM_001482.3:c.*600A>G MANE Select | NP_001473.1:n.*600A>G | |
| NM_001321015.2:c.*600A>G | NP_001307944.1:n.*600A>G |