Linked Data
ClinVar Variation Id:
316205
ClinVar RCV Id:
RCV000289009
dbSNP Id:
rs750817737
gnomAD v2:
15-45653608-T-G
gnomAD v3:
15-45361410-T-G
gnomAD v4:
15-45361410-T-G
ERepo:
CA10642025/MONDO:0012996/025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45361410T>G , CM000677.2:g.45361410T>G | GRCh38 |
| NC_000015.9:g.45653608T>G , CM000677.1:g.45653608T>G | GRCh37 |
| NC_000015.8:g.43440900T>G | NCBI36 |
| NG_011674.1:g.22373A>C | |
| NG_011674.2:g.45908A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.*699A>C MANE Select | ENSP00000379895.3:n.*699A>C | |
| ENST00000675158.1:c.*871A>C | ENSP00000501737.1:n.*871A>C | |
| ENST00000675323.1:c.*2473A>C | ENSP00000502445.1:n.*2473A>C | |
| ENST00000676090.1:c.*2702A>C | ENSP00000501630.1:n.*2702A>C | |
| ENST00000396659.7:c.*699A>C | ENSP00000379895.3:n.*699A>C | |
| ENST00000558362.5:n.3627A>C | ||
| NM_001482.2:c.*699A>C | NP_001473.1:n.*699A>C | |
| XM_011521450.1:c.*699A>C | XP_011519752.1:n.*699A>C | |
| XM_011521451.1:c.*699A>C | XP_011519753.1:n.*699A>C | |
| NM_001321015.1:c.*699A>C | NP_001307944.1:n.*699A>C | |
| NM_001482.3:c.*699A>C MANE Select | NP_001473.1:n.*699A>C | |
| NM_001321015.2:c.*699A>C | NP_001307944.1:n.*699A>C |