ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000096 (NFE)
Exomes Max Group AF
0.00000939 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77490799C>G , CM000679.2:g.77490799C>G | GRCh38 |
| NC_000017.10:g.75486881C>G , CM000679.1:g.75486881C>G | GRCh37 |
| NC_000017.9:g.72998476C>G | NCBI36 |
| NG_011683.1:g.214390C>G | |
| NG_011683.2:g.214390C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329047.13:c.1266C>G MANE Plus Clinical | ENSP00000329161.8:p.Val422= | |
| ENST00000427177.6:c.1320C>G MANE Select | ENSP00000391249.1:p.Val440= | |
| ENST00000588690.6:c.828C>G | ENSP00000468668.1:p.Val276= | |
| ENST00000589250.6:n.624C>G | ||
| ENST00000590294.6:n.1369C>G | ||
| ENST00000592481.6:c.567C>G | ENSP00000502589.1:p.Val189= | |
| ENST00000675703.1:n.489C>G | ||
| ENST00000329047.12:c.1266C>G | ENSP00000329161.8:p.Val422= | |
| ENST00000423034.6:c.1299C>G | ENSP00000405877.1:p.Val433= | |
| ENST00000427177.5:c.1320C>G | ENSP00000391249.1:p.Val440= | |
| ENST00000427180.5:c.984C>G | ENSP00000415624.1:p.Val328= | |
| ENST00000427674.6:c.828C>G | ENSP00000403194.1:p.Val276= | |
| ENST00000431235.6:c.828C>G | ENSP00000406987.2:p.Val276= | |
| ENST00000449803.6:c.828C>G | ENSP00000400181.2:p.Val276= | |
| ENST00000541152.6:c.567C>G | ENSP00000438089.2:p.Val189= | |
| ENST00000585930.5:c.648C>G | ENSP00000468120.1:p.Val216= | |
| ENST00000588690.5:c.828C>G | ENSP00000468668.1:p.Val276= | |
| ENST00000588958.6:c.567C>G | ENSP00000464832.1:p.Val189= | |
| ENST00000589250.5:n.120C>G | ||
| ENST00000590294.5:c.1266C>G | ENSP00000465464.1:p.Val422= | |
| ENST00000591088.5:c.567C>G | ENSP00000466247.1:p.Val189= | |
| ENST00000591198.5:c.1263C>G | ENSP00000468406.1:p.Val421= | |
| ENST00000591704.5:c.567C>G | ENSP00000465415.1:p.Val189= | |
| ENST00000592481.5:n.884C>G | ||
| ENST00000592951.5:c.567C>G | ENSP00000466648.1:p.Val189= | |
| ENST00000593189.6:c.567C>G | ENSP00000465904.1:p.Val189= | |
| NM_001113491.1:c.1320C>G | NP_001106963.1:p.Val440= | |
| NM_001113492.1:c.828C>G | NP_001106964.1:p.Val276= | |
| NM_001113493.1:c.1299C>G | NP_001106965.1:p.Val433= | |
| NM_001113494.1:c.828C>G | NP_001106966.1:p.Val276= | |
| NM_001113495.1:c.984C>G | NP_001106967.1:p.Val328= | |
| NM_001113496.1:c.567C>G | NP_001106968.1:p.Val189= | |
| NM_001293695.1:c.1263C>G | NP_001280624.1:p.Val421= | |
| NM_001293696.1:c.648C>G | NP_001280625.1:p.Val216= | |
| NM_001293697.1:c.567C>G | NP_001280626.1:p.Val189= | |
| NM_001293698.1:c.567C>G | NP_001280627.1:p.Val189= | |
| NM_006640.4:c.1266C>G | NP_006631.2:p.Val422= | |
| XM_005256962.1:c.567C>G | XP_005257019.1:p.Val189= | |
| XM_006721643.2:c.828C>G | XP_006721706.1:p.Val276= | |
| XM_006721644.1:c.567C>G | XP_006721707.1:p.Val189= | |
| XM_011524204.1:c.1413C>G | XP_011522506.1:p.Val471= | |
| XM_011524205.1:c.1410C>G | XP_011522507.1:p.Val470= | |
| XM_011524206.1:c.1275C>G | XP_011522508.1:p.Val425= | |
| XM_011524207.1:c.828C>G | XP_011522509.1:p.Val276= | |
| XM_011524208.1:c.567C>G | XP_011522510.1:p.Val189= | |
| XM_011524209.1:c.567C>G | XP_011522511.1:p.Val189= | |
| NM_001113491.2:c.1320C>G MANE Select | NP_001106963.1:p.Val440= | |
| NM_001113493.2:c.1299C>G | NP_001106965.1:p.Val433= | |
| NM_001113496.2:c.567C>G | NP_001106968.1:p.Val189= | |
| NM_001293695.2:c.1263C>G | NP_001280624.1:p.Val421= | |
| NM_001293696.2:c.648C>G | NP_001280625.1:p.Val216= | |
| NM_001293697.2:c.567C>G | NP_001280626.1:p.Val189= | |
| NM_001293698.2:c.567C>G | NP_001280627.1:p.Val189= | |
| NM_001113492.2:c.828C>G | NP_001106964.1:p.Val276= | |
| NM_001113495.2:c.567C>G | NP_001106967.2:p.Val189= | |
| NM_006640.5:c.1266C>G MANE Plus Clinical | NP_006631.2:p.Val422= |