Linked Data
ClinVar Variation Id:
228406
dbSNP Id:
rs876657728
gnomAD v2:
9-75420407-G-A
gnomAD v3:
9-72805491-G-A
gnomAD v4:
9-72805491-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72805491G>A , CM000671.2:g.72805491G>A | GRCh38 |
| NC_000009.11:g.75420407G>A , CM000671.1:g.75420407G>A | GRCh37 |
| NC_000009.10:g.74610227G>A | NCBI36 |
| NG_008213.1:g.288691G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297784.10:c.1676G>A MANE Select | ENSP00000297784.6:p.Trp559Ter | |
| ENST00000644967.1:c.1238G>A | ENSP00000496159.1:p.Trp413Ter | |
| ENST00000645053.1:c.1238G>A | ENSP00000493838.1:p.Trp413Ter | |
| ENST00000645208.2:c.1676G>A | ENSP00000494684.1:p.Trp559Ter | |
| ENST00000645773.1:c.1550G>A | ENSP00000493698.1:p.Trp517Ter | |
| ENST00000645787.1:n.1819G>A | ||
| ENST00000646619.1:c.1238G>A | ENSP00000493726.1:p.Trp413Ter | |
| ENST00000651183.1:c.1238G>A | ENSP00000498723.1:p.Trp413Ter | |
| ENST00000297784.9:c.1676G>A | ENSP00000297784.5:p.Trp559Ter | |
| ENST00000340019.4:c.1676G>A | ENSP00000341433.3:p.Trp559Ter | |
| ENST00000486417.5:n.300G>A | ||
| NM_138691.2:c.1676G>A | NP_619636.2:p.Trp559Ter | |
| XM_011518213.1:c.2264G>A | XP_011516515.1:p.Trp755Ter | |
| XM_017014256.1:c.1679G>A | XP_016869745.1:p.Trp560Ter | |
| NM_138691.3:c.1676G>A MANE Select | NP_619636.2:p.Trp559Ter |