Linked Data
dbSNP Id:
rs759136182
gnomAD v2:
17-45822187-T-G
gnomAD v3:
17-47744821-T-G
gnomAD v4:
17-47744821-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47744821T>G , CM000679.2:g.47744821T>G | GRCh38 |
| NC_000017.10:g.45822187T>G , CM000679.1:g.45822187T>G | GRCh37 |
| NC_000017.9:g.43177186T>G | NCBI36 |
| NG_012166.1:g.16578T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.1063T>G MANE Select | ENSP00000177694.1:p.Tyr355Asp | |
| ENST00000177694.1:c.1063T>G | ENSP00000177694.1:p.Tyr355Asp | |
| NM_013351.1:c.1063T>G | NP_037483.1:p.Tyr355Asp | |
| XM_011524698.1:c.1126T>G | XP_011523000.1:p.Tyr376Asp | |
| XM_011524699.1:c.730T>G | XP_011523001.1:p.Tyr244Asp | |
| NM_013351.2:c.1063T>G MANE Select | NP_037483.1:p.Tyr355Asp |