Linked Data
ClinVar Variation Id:
137451
dbSNP Id:
rs550159982
ExAC:
15:45654340 C / T
gnomAD v2:
15-45654340-C-T
gnomAD v3:
15-45362142-C-T
gnomAD v4:
15-45362142-C-T
ERepo:
CA291041/MONDO:0012996/025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45362142C>T , CM000677.2:g.45362142C>T | GRCh38 |
| NC_000015.9:g.45654340C>T , CM000677.1:g.45654340C>T | GRCh37 |
| NC_000015.8:g.43441632C>T | NCBI36 |
| NG_011674.1:g.21641G>A | |
| NG_011674.2:g.45176G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.1239G>A MANE Select | ENSP00000379895.3:p.Arg413= | |
| ENST00000674905.1:c.*201G>A | ENSP00000502176.1:n.*201G>A | |
| ENST00000675158.1:c.*139G>A | ENSP00000501737.1:n.*139G>A | |
| ENST00000675323.1:c.*1741G>A | ENSP00000502445.1:n.*1741G>A | |
| ENST00000675701.1:c.1179G>A | ENSP00000502671.1:p.Arg393= | |
| ENST00000675974.1:n.3788G>A | ||
| ENST00000676090.1:c.*1970G>A | ENSP00000501630.1:n.*1970G>A | |
| ENST00000396659.7:c.1239G>A | ENSP00000379895.3:p.Arg413= | |
| ENST00000558362.5:n.2895G>A | ||
| NM_001482.2:c.1239G>A | NP_001473.1:p.Arg413= | |
| XM_011521450.1:c.1287G>A | XP_011519752.1:p.Arg429= | |
| XM_011521451.1:c.1281G>A | XP_011519753.1:p.Arg427= | |
| NM_001321015.1:c.852G>A | NP_001307944.1:p.Arg284= | |
| NM_001482.3:c.1239G>A MANE Select | NP_001473.1:p.Arg413= | |
| NM_001321015.2:c.852G>A | NP_001307944.1:p.Arg284= |