Linked Data
dbSNP Id:
rs758200296
ExAC:
9:6558581 T / A
gnomAD v2:
9-6558581-T-A
gnomAD v4:
9-6558581-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558581T>A , CM000671.2:g.6558581T>A | GRCh38 |
| NC_000009.11:g.6558581T>A , CM000671.1:g.6558581T>A | GRCh37 |
| NC_000009.10:g.6548581T>A | NCBI36 |
| NG_016397.1:g.92112A>T , LRG_643:g.92112A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2030A>T MANE Select | ENSP00000370737.4:p.Asp677Val | |
| ENST00000460457.2:n.190A>T | ||
| ENST00000638233.1:n.465A>T | ||
| ENST00000638661.1:c.230A>T | ENSP00000491369.1:p.Asp77Val | |
| ENST00000638694.1:n.217A>T | ||
| ENST00000639318.1:c.230A>T | ENSP00000491932.1:p.Asp77Val | |
| ENST00000639364.1:n.1730A>T | ||
| ENST00000639443.1:n.1598A>T | ||
| ENST00000639954.1:n.1738A>T | ||
| ENST00000640208.1:c.230A>T | ENSP00000491895.1:p.Asp77Val | |
| ENST00000640505.1:n.269A>T | ||
| ENST00000640592.1:n.1913A>T | ||
| ENST00000321612.6:c.2030A>T | ENSP00000370737.3:p.Asp677Val | |
| ENST00000460457.1:n.169A>T | ||
| NM_000170.2:c.2030A>T , LRG_643t1:c.2030A>T | NP_000161.2:p.Asp677Val | |
| NM_000170.3:c.2030A>T MANE Select | NP_000161.2:p.Asp677Val |