Linked Data
ClinVar Variation Id:
1431499
ClinVar RCV Id:
RCV001940782
dbSNP Id:
rs761438840
ExAC:
1:53676399 G / T
gnomAD v2:
1-53676399-G-T
gnomAD v4:
1-53210727-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53210727G>T , CM000663.2:g.53210727G>T | GRCh38 |
| NC_000001.10:g.53676399G>T , CM000663.1:g.53676399G>T | GRCh37 |
| NC_000001.9:g.53448987G>T | NCBI36 |
| NG_008035.1:g.19299G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.1053G>T MANE Select | ENSP00000360541.3:p.Trp351Cys | |
| ENST00000635862.1:c.1053G>T | ENSP00000490867.1:p.Trp351Cys | |
| ENST00000635888.1:c.*1039G>T | ENSP00000490042.1:n.*1039G>T | |
| ENST00000636239.1:c.*700G>T | ENSP00000490066.1:n.*700G>T | |
| ENST00000636867.1:c.1053G>T | ENSP00000489631.1:p.Trp351Cys | |
| ENST00000636891.1:c.1053G>T | ENSP00000490399.1:p.Trp351Cys | |
| ENST00000636935.1:c.341-2537G>T | ENSP00000489757.1:n.341-2537G>T | |
| ENST00000637252.1:c.1053G>T | ENSP00000490492.1:p.Trp351Cys | |
| ENST00000637726.1:n.3253G>T | ||
| ENST00000638135.1:c.*700G>T | ENSP00000489756.1:n.*700G>T | |
| ENST00000371486.3:c.1053G>T | ENSP00000360541.3:p.Trp351Cys | |
| NM_000098.2:c.1053G>T | NP_000089.1:p.Trp351Cys | |
| XM_005270484.1:c.1053G>T | XP_005270541.1:p.Trp351Cys | |
| NM_001330589.1:c.1053G>T | NP_001317518.1:p.Trp351Cys | |
| NM_000098.3:c.1053G>T MANE Select | NP_000089.1:p.Trp351Cys | |
| NM_001330589.2:c.1053G>T | NP_001317518.1:p.Trp351Cys |