Linked Data
ClinVar Variation Id:
225921
dbSNP Id:
rs374592247
ExAC:
15:45654335 C / T
gnomAD v2:
15-45654335-C-T
gnomAD v3:
15-45362137-C-T
gnomAD v4:
15-45362137-C-T
COSMIC:
COSM244665
ERepo:
CA7542752/MONDO:0012996/025
PubMed:
PMID:27233232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45362137C>T , CM000677.2:g.45362137C>T | GRCh38 |
| NC_000015.9:g.45654335C>T , CM000677.1:g.45654335C>T | GRCh37 |
| NC_000015.8:g.43441627C>T | NCBI36 |
| NG_011674.1:g.21646G>A | |
| NG_011674.2:g.45181G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.1244G>A MANE Select | ENSP00000379895.3:p.Arg415Gln | |
| ENST00000674905.1:c.*206G>A | ENSP00000502176.1:n.*206G>A | |
| ENST00000675158.1:c.*144G>A | ENSP00000501737.1:n.*144G>A | |
| ENST00000675323.1:c.*1746G>A | ENSP00000502445.1:n.*1746G>A | |
| ENST00000675701.1:c.1184G>A | ENSP00000502671.1:p.Arg395Gln | |
| ENST00000675974.1:n.3793G>A | ||
| ENST00000676090.1:c.*1975G>A | ENSP00000501630.1:n.*1975G>A | |
| ENST00000396659.7:c.1244G>A | ENSP00000379895.3:p.Arg415Gln | |
| ENST00000558362.5:n.2900G>A | ||
| NM_001482.2:c.1244G>A | NP_001473.1:p.Arg415Gln | |
| XM_011521450.1:c.1292G>A | XP_011519752.1:p.Arg431Gln | |
| XM_011521451.1:c.1286G>A | XP_011519753.1:p.Arg429Gln | |
| NM_001321015.1:c.857G>A | NP_001307944.1:p.Arg286Gln | |
| NM_001482.3:c.1244G>A MANE Select | NP_001473.1:p.Arg415Gln | |
| NM_001321015.2:c.857G>A | NP_001307944.1:p.Arg286Gln |