Linked Data
dbSNP Id:
rs199944654
ExAC:
9:130575849 T / C
gnomAD v2:
9-130575849-T-C
gnomAD v3:
9-127813570-T-C
gnomAD v4:
9-127813570-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127813570T>C , CM000671.2:g.127813570T>C | GRCh38 |
| NC_000009.11:g.130575849T>C , CM000671.1:g.130575849T>C | GRCh37 |
| NC_000009.10:g.129615670T>C | NCBI36 |
| NG_009551.1:g.46199A>G , LRG_589:g.46199A>G | |
| NG_023245.1:g.15696T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373247.7:c.1730T>C MANE Select | ENSP00000362344.2:p.Val577Ala | |
| ENST00000373225.7:c.1580T>C | ENSP00000362322.3:p.Val527Ala | |
| ENST00000373247.6:c.1730T>C | ENSP00000362344.2:p.Val577Ala | |
| ENST00000393706.6:c.1652T>C | ENSP00000377309.2:p.Val551Ala | |
| ENST00000460181.5:n.1718T>C | ||
| ENST00000467826.5:n.709+247T>C | ||
| ENST00000475270.1:n.556T>C | ||
| ENST00000630236.2:c.*454T>C | ENSP00000486766.1:n.*454T>C | |
| NM_001018078.2:c.1580T>C | NP_001018088.1:p.Val527Ala | |
| NM_001288803.1:c.1652T>C | NP_001275732.1:p.Val551Ala | |
| NM_004957.5:c.1730T>C | NP_004948.4:p.Val577Ala | |
| NR_110170.1:n.1778T>C | ||
| XM_005251864.2:c.1483+247T>C | XP_005251921.1:n.1483+247T>C | |
| XM_011518437.1:c.1580T>C | XP_011516739.1:p.Val527Ala | |
| XM_011518438.1:c.1580T>C | XP_011516740.1:p.Val527Ala | |
| XM_011518439.1:c.887T>C | XP_011516741.1:p.Val296Ala | |
| XR_242581.2:n.1627T>C | ||
| XR_242582.2:n.1380+247T>C | ||
| XM_005251864.4:c.1483+247T>C | XP_005251921.1:n.1483+247T>C | |
| XM_011518439.2:c.887T>C | XP_011516741.1:p.Val296Ala | |
| XM_017014565.2:c.1333+247T>C | XP_016870054.1:n.1333+247T>C | |
| XM_017014566.1:c.887T>C | XP_016870055.1:p.Val296Ala | |
| XR_242581.4:n.1625T>C | ||
| XR_242582.4:n.1378+247T>C | ||
| NM_004957.6:c.1730T>C MANE Select | NP_004948.4:p.Val577Ala |