Linked Data
ClinVar Variation Id:
316208
ClinVar RCV Id:
RCV000301010
dbSNP Id:
rs886051201
gnomAD v4:
15-45362005-T-C
ERepo:
CA10642026/MONDO:0012996/025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45362005T>C , CM000677.2:g.45362005T>C | GRCh38 |
| NC_000015.9:g.45654203T>C , CM000677.1:g.45654203T>C | GRCh37 |
| NC_000015.8:g.43441495T>C | NCBI36 |
| NG_011674.1:g.21778A>G | |
| NG_011674.2:g.45313A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.*104A>G MANE Select | ENSP00000379895.3:n.*104A>G | |
| ENST00000674905.1:c.*338A>G | ENSP00000502176.1:n.*338A>G | |
| ENST00000675158.1:c.*276A>G | ENSP00000501737.1:n.*276A>G | |
| ENST00000675323.1:c.*1878A>G | ENSP00000502445.1:n.*1878A>G | |
| ENST00000675701.1:c.*104A>G | ENSP00000502671.1:n.*104A>G | |
| ENST00000675974.1:n.3925A>G | ||
| ENST00000676090.1:c.*2107A>G | ENSP00000501630.1:n.*2107A>G | |
| ENST00000396659.7:c.*104A>G | ENSP00000379895.3:n.*104A>G | |
| ENST00000558362.5:n.3032A>G | ||
| NM_001482.2:c.*104A>G | NP_001473.1:n.*104A>G | |
| XM_011521450.1:c.*104A>G | XP_011519752.1:n.*104A>G | |
| XM_011521451.1:c.*104A>G | XP_011519753.1:n.*104A>G | |
| NM_001321015.1:c.*104A>G | NP_001307944.1:n.*104A>G | |
| NM_001482.3:c.*104A>G MANE Select | NP_001473.1:n.*104A>G | |
| NM_001321015.2:c.*104A>G | NP_001307944.1:n.*104A>G |