Linked Data
ClinVar Variation Id:
374674
dbSNP Id:
rs1057519193
gnomAD v3:
1-215759786-C-T
gnomAD v4:
1-215759786-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215759786C>T , CM000663.2:g.215759786C>T | GRCh38 |
| NC_000001.10:g.215933128C>T , CM000663.1:g.215933128C>T | GRCh37 |
| NC_000001.9:g.213999751C>T | NCBI36 |
| NG_009497.1:g.668611G>A | |
| NG_009497.2:g.668663G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.11105G>A MANE Select | ENSP00000305941.3:p.Trp3702Ter | |
| ENST00000674083.1:c.11105G>A | ENSP00000501296.1:p.Trp3702Ter | |
| ENST00000307340.7:c.11105G>A | ENSP00000305941.3:p.Trp3702Ter | |
| NM_206933.2:c.11105G>A | NP_996816.2:p.Trp3702Ter | |
| NM_206933.3:c.11105G>A | NP_996816.2:p.Trp3702Ter | |
| NM_206933.4:c.11105G>A MANE Select | NP_996816.3:p.Trp3702Ter |