Linked Data
ClinVar Variation Id:
52980
ClinVar RCV Id:
RCV000057582
RCV000148551
RCV000224680
RCV000764974
RCV001248784
RCV001841631
RCV000621439
dbSNP Id:
rs140452381
ExAC:
11:2610045 C / T
gnomAD v2:
11-2610045-C-T
gnomAD v3:
11-2588815-C-T
gnomAD v4:
11-2588815-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2588815C>T , CM000673.2:g.2588815C>T | GRCh38 |
| NC_000011.9:g.2610045C>T , CM000673.1:g.2610045C>T | GRCh37 |
| NC_000011.8:g.2566621C>T | NCBI36 |
| NG_008935.1:g.148825C>T , LRG_287:g.148825C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.997C>T | ENSP00000434560.2:p.Arg333Trp | |
| ENST00000646564.2:c.814C>T | ENSP00000495806.2:p.Arg272Trp | |
| ENST00000155840.12:c.1354C>T MANE Select | ENSP00000155840.2:p.Arg452Trp | |
| ENST00000335475.6:c.973C>T | ENSP00000334497.5:p.Arg325Trp | |
| ENST00000646564.1:c.460C>T | ENSP00000495806.1:p.Arg154Trp | |
| ENST00000155840.9:c.1354C>T | ENSP00000155840.2:p.Arg452Trp | |
| ENST00000335475.5:c.973C>T | ENSP00000334497.5:p.Arg325Trp | |
| NM_000218.2:c.1354C>T , LRG_287t1:c.1354C>T | NP_000209.2:p.Arg452Trp | |
| NM_181798.1:c.973C>T , LRG_287t2:c.973C>T | NP_861463.1:p.Arg325Trp | |
| NM_000218.3:c.1354C>T MANE Select | NP_000209.2:p.Arg452Trp |