Linked Data
ClinVar Variation Id:
1144411
ClinVar RCV Id:
RCV001482940
dbSNP Id:
rs554776730
ExAC:
1:53676351 T / C
gnomAD v2:
1-53676351-T-C
gnomAD v3:
1-53210679-T-C
gnomAD v4:
1-53210679-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53210679T>C , CM000663.2:g.53210679T>C | GRCh38 |
| NC_000001.10:g.53676351T>C , CM000663.1:g.53676351T>C | GRCh37 |
| NC_000001.9:g.53448939T>C | NCBI36 |
| NG_008035.1:g.19251T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.1005T>C MANE Select | ENSP00000360541.3:p.Leu335= | |
| ENST00000635862.1:c.1005T>C | ENSP00000490867.1:p.Leu335= | |
| ENST00000635888.1:c.*991T>C | ENSP00000490042.1:n.*991T>C | |
| ENST00000636239.1:c.*652T>C | ENSP00000490066.1:n.*652T>C | |
| ENST00000636867.1:c.1005T>C | ENSP00000489631.1:p.Leu335= | |
| ENST00000636891.1:c.1005T>C | ENSP00000490399.1:p.Leu335= | |
| ENST00000636935.1:c.341-2585T>C | ENSP00000489757.1:n.341-2585T>C | |
| ENST00000637252.1:c.1005T>C | ENSP00000490492.1:p.Leu335= | |
| ENST00000637726.1:n.3205T>C | ||
| ENST00000638135.1:c.*652T>C | ENSP00000489756.1:n.*652T>C | |
| ENST00000371486.3:c.1005T>C | ENSP00000360541.3:p.Leu335= | |
| NM_000098.2:c.1005T>C | NP_000089.1:p.Leu335= | |
| XM_005270484.1:c.1005T>C | XP_005270541.1:p.Leu335= | |
| NM_001330589.1:c.1005T>C | NP_001317518.1:p.Leu335= | |
| NM_000098.3:c.1005T>C MANE Select | NP_000089.1:p.Leu335= | |
| NM_001330589.2:c.1005T>C | NP_001317518.1:p.Leu335= |