Linked Data
dbSNP Id:
rs774217492
ExAC:
9:130575760 C / G
gnomAD v2:
9-130575760-C-G
gnomAD v3:
9-127813481-C-G
gnomAD v4:
9-127813481-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127813481C>G , CM000671.2:g.127813481C>G | GRCh38 |
| NC_000009.11:g.130575760C>G , CM000671.1:g.130575760C>G | GRCh37 |
| NC_000009.10:g.129615581C>G | NCBI36 |
| NG_009551.1:g.46288G>C , LRG_589:g.46288G>C | |
| NG_023245.1:g.15607C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373247.7:c.1641C>G MANE Select | ENSP00000362344.2:p.His547Gln | |
| ENST00000373225.7:c.1491C>G | ENSP00000362322.3:p.His497Gln | |
| ENST00000373247.6:c.1641C>G | ENSP00000362344.2:p.His547Gln | |
| ENST00000393706.6:c.1563C>G | ENSP00000377309.2:p.His521Gln | |
| ENST00000460181.5:n.1629C>G | ||
| ENST00000467826.5:n.709+158C>G | ||
| ENST00000475270.1:n.467C>G | ||
| ENST00000630236.2:c.*365C>G | ENSP00000486766.1:n.*365C>G | |
| NM_001018078.2:c.1491C>G | NP_001018088.1:p.His497Gln | |
| NM_001288803.1:c.1563C>G | NP_001275732.1:p.His521Gln | |
| NM_004957.5:c.1641C>G | NP_004948.4:p.His547Gln | |
| NR_110170.1:n.1689C>G | ||
| XM_005251864.2:c.1483+158C>G | XP_005251921.1:n.1483+158C>G | |
| XM_011518437.1:c.1491C>G | XP_011516739.1:p.His497Gln | |
| XM_011518438.1:c.1491C>G | XP_011516740.1:p.His497Gln | |
| XM_011518439.1:c.798C>G | XP_011516741.1:p.His266Gln | |
| XR_242581.2:n.1538C>G | ||
| XR_242582.2:n.1380+158C>G | ||
| XM_005251864.4:c.1483+158C>G | XP_005251921.1:n.1483+158C>G | |
| XM_011518439.2:c.798C>G | XP_011516741.1:p.His266Gln | |
| XM_017014565.2:c.1333+158C>G | XP_016870054.1:n.1333+158C>G | |
| XM_017014566.1:c.798C>G | XP_016870055.1:p.His266Gln | |
| XR_242581.4:n.1536C>G | ||
| XR_242582.4:n.1378+158C>G | ||
| NM_004957.6:c.1641C>G MANE Select | NP_004948.4:p.His547Gln |