Linked Data
dbSNP Id:
rs780018406
ExAC:
9:38396801 T / A
gnomAD v2:
9-38396801-T-A
gnomAD v4:
9-38396804-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396804T>A , CM000671.2:g.38396804T>A | GRCh38 |
| NC_000009.11:g.38396801T>A , CM000671.1:g.38396801T>A | GRCh37 |
| NC_000009.10:g.38386801T>A | NCBI36 |
| NG_012253.1:g.9100T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.1056T>A MANE Select | ENSP00000366927.3:p.Phe352Leu | |
| ENST00000377698.3:c.1056T>A | ENSP00000366927.3:p.Phe352Leu | |
| NM_000692.4:c.1056T>A | NP_000683.3:p.Phe352Leu | |
| XM_011517802.1:c.1056T>A | XP_011516104.1:p.Phe352Leu | |
| XM_011517802.2:c.1056T>A | XP_011516104.1:p.Phe352Leu | |
| NM_000692.5:c.1056T>A MANE Select | NP_000683.3:p.Phe352Leu |