Linked Data
ClinVar Variation Id:
161546
ClinVar RCV Id:
RCV000149081
dbSNP Id:
rs193920952
ExAC:
15:91827280 C / T
gnomAD v2:
15-91827280-C-T
gnomAD v3:
15-91284050-C-T
gnomAD v4:
15-91284050-C-T
COSMIC:
COSM1178706
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91284050C>T , CM000677.2:g.91284050C>T | GRCh38 |
| NC_000015.9:g.91827280C>T , CM000677.1:g.91827280C>T | GRCh37 |
| NC_000015.8:g.89628284C>T | NCBI36 |
| NG_051558.1:g.189330C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394232.6:c.1537C>T MANE Select | ENSP00000377779.1:p.Arg513Trp | |
| ENST00000330276.4:c.1537C>T | ENSP00000332818.4:p.Arg513Trp | |
| ENST00000394232.5:c.1537C>T | ENSP00000377779.1:p.Arg513Trp | |
| ENST00000545111.6:c.1084C>T | ENSP00000443243.2:p.Arg362Trp | |
| ENST00000557410.5:c.1537C>T | ENSP00000450992.1:p.Arg513Trp | |
| NM_001167580.1:c.1084C>T | NP_001161052.1:p.Arg362Trp | |
| NM_014848.4:c.1537C>T | NP_055663.1:p.Arg513Trp | |
| XM_005254997.3:c.1537C>T | XP_005255054.1:p.Arg513Trp | |
| XM_005254998.2:c.1537C>T | XP_005255055.1:p.Arg513Trp | |
| XM_011522263.1:c.1537C>T | XP_011520565.1:p.Arg513Trp | |
| XM_011522264.1:c.1537C>T | XP_011520566.1:p.Arg513Trp | |
| NM_001167580.2:c.1084C>T | NP_001161052.1:p.Arg362Trp | |
| NM_001323031.2:c.1537C>T | NP_001309960.1:p.Arg513Trp | |
| NM_001323032.2:c.1537C>T | NP_001309961.1:p.Arg513Trp | |
| NM_001323033.2:c.1204C>T | NP_001309962.1:p.Arg402Trp | |
| NM_001323034.2:c.1507+2189C>T | NP_001309963.1:n.1507+2189C>T | |
| NM_001323036.2:c.1108C>T | NP_001309965.1:p.Arg370Trp | |
| NM_001323037.2:c.1537C>T | NP_001309966.1:p.Arg513Trp | |
| NM_001323038.2:c.1537C>T | NP_001309967.1:p.Arg513Trp | |
| NM_001323039.2:c.1537C>T | NP_001309968.1:p.Arg513Trp | |
| NM_001323040.2:c.1084C>T | NP_001309969.1:p.Arg362Trp | |
| NM_014848.6:c.1537C>T | NP_055663.1:p.Arg513Trp | |
| XM_005254998.3:c.1537C>T | XP_005255055.1:p.Arg513Trp | |
| XM_017022761.1:c.1537C>T | XP_016878250.1:p.Arg513Trp | |
| XM_017022762.1:c.1537C>T | XP_016878251.1:p.Arg513Trp | |
| NM_001167580.3:c.1084C>T | NP_001161052.1:p.Arg362Trp | |
| NM_001323032.3:c.1537C>T MANE Select | NP_001309961.1:p.Arg513Trp | |
| NM_001323033.3:c.1204C>T | NP_001309962.1:p.Arg402Trp | |
| NM_001323034.3:c.1507+2189C>T | NP_001309963.1:n.1507+2189C>T | |
| NM_001323036.3:c.1108C>T | NP_001309965.1:p.Arg370Trp | |
| NM_001323037.3:c.1537C>T | NP_001309966.1:p.Arg513Trp | |
| NM_001323038.3:c.1537C>T | NP_001309967.1:p.Arg513Trp | |
| NM_001323039.3:c.1537C>T | NP_001309968.1:p.Arg513Trp | |
| NM_001323040.3:c.1084C>T | NP_001309969.1:p.Arg362Trp | |
| NM_014848.7:c.1537C>T | NP_055663.1:p.Arg513Trp |