Linked Data
dbSNP Id:
rs761456090
ExAC:
9:130575761 C / A
gnomAD v2:
9-130575761-C-A
gnomAD v4:
9-127813482-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127813482C>A , CM000671.2:g.127813482C>A | GRCh38 |
| NC_000009.11:g.130575761C>A , CM000671.1:g.130575761C>A | GRCh37 |
| NC_000009.10:g.129615582C>A | NCBI36 |
| NG_009551.1:g.46287G>T , LRG_589:g.46287G>T | |
| NG_023245.1:g.15608C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373247.7:c.1642C>A MANE Select | ENSP00000362344.2:p.Pro548Thr | |
| ENST00000373225.7:c.1492C>A | ENSP00000362322.3:p.Pro498Thr | |
| ENST00000373247.6:c.1642C>A | ENSP00000362344.2:p.Pro548Thr | |
| ENST00000393706.6:c.1564C>A | ENSP00000377309.2:p.Pro522Thr | |
| ENST00000460181.5:n.1630C>A | ||
| ENST00000467826.5:n.709+159C>A | ||
| ENST00000475270.1:n.468C>A | ||
| ENST00000630236.2:c.*366C>A | ENSP00000486766.1:n.*366C>A | |
| NM_001018078.2:c.1492C>A | NP_001018088.1:p.Pro498Thr | |
| NM_001288803.1:c.1564C>A | NP_001275732.1:p.Pro522Thr | |
| NM_004957.5:c.1642C>A | NP_004948.4:p.Pro548Thr | |
| NR_110170.1:n.1690C>A | ||
| XM_005251864.2:c.1483+159C>A | XP_005251921.1:n.1483+159C>A | |
| XM_011518437.1:c.1492C>A | XP_011516739.1:p.Pro498Thr | |
| XM_011518438.1:c.1492C>A | XP_011516740.1:p.Pro498Thr | |
| XM_011518439.1:c.799C>A | XP_011516741.1:p.Pro267Thr | |
| XR_242581.2:n.1539C>A | ||
| XR_242582.2:n.1380+159C>A | ||
| XM_005251864.4:c.1483+159C>A | XP_005251921.1:n.1483+159C>A | |
| XM_011518439.2:c.799C>A | XP_011516741.1:p.Pro267Thr | |
| XM_017014565.2:c.1333+159C>A | XP_016870054.1:n.1333+159C>A | |
| XM_017014566.1:c.799C>A | XP_016870055.1:p.Pro267Thr | |
| XR_242581.4:n.1537C>A | ||
| XR_242582.4:n.1378+159C>A | ||
| NM_004957.6:c.1642C>A MANE Select | NP_004948.4:p.Pro548Thr |