Linked Data
ClinVar Variation Id:
208578
dbSNP Id:
rs797045089
gnomAD v2:
6-64791792-G-T
gnomAD v3:
6-64081899-G-T
gnomAD v4:
6-64081899-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.64081899G>T , CM000668.2:g.64081899G>T | GRCh38 |
| NC_000006.11:g.64791792G>T , CM000668.1:g.64791792G>T | GRCh37 |
| NC_000006.10:g.64849751G>T | NCBI36 |
| NG_023443.1:g.1630327C>A | |
| NG_023443.2:g.1630327C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.6528C>A MANE Select | ENSP00000424243.1:p.Tyr2176Ter | |
| ENST00000370616.6:c.6528C>A | ENSP00000359650.2:p.Tyr2176Ter | |
| ENST00000370618.7:c.6528C>A | ENSP00000359652.4:p.Tyr2176Ter | |
| ENST00000370621.7:c.6528C>A | ENSP00000359655.3:p.Tyr2176Ter | |
| ENST00000503581.5:c.6528C>A | ENSP00000424243.1:p.Tyr2176Ter | |
| NM_001142800.1:c.6528C>A | NP_001136272.1:p.Tyr2176Ter | |
| NM_001292009.1:c.6528C>A | NP_001278938.1:p.Tyr2176Ter | |
| NM_001142800.2:c.6528C>A MANE Select | NP_001136272.1:p.Tyr2176Ter | |
| NM_001292009.2:c.6528C>A | NP_001278938.1:p.Tyr2176Ter |