Linked Data
ClinVar Variation Id:
522584
dbSNP Id:
rs376095522
ExAC:
15:82422793 C / T
gnomAD v2:
15-82422793-C-T
gnomAD v3:
15-82130452-C-T
gnomAD v4:
15-82130452-C-T
COSMIC:
COSM1374947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82130452C>T , CM000677.2:g.82130452C>T | GRCh38 |
| NC_000015.9:g.82422793C>T , CM000677.1:g.82422793C>T | GRCh37 |
| NC_000015.8:g.80209848C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359445.8:c.3131G>A | ENSP00000352418.3:p.Arg1044Gln | |
| ENST00000557939.2:c.3146G>A | ENSP00000452825.2:p.Arg1049Gln | |
| ENST00000561331.2:n.2665G>A | ||
| ENST00000561340.2:c.1397G>A | ENSP00000512528.1:p.Arg466Gln | |
| ENST00000561389.2:c.*3022G>A | ENSP00000452687.1:n.*3022G>A | |
| ENST00000696327.1:c.1547G>A | ENSP00000512563.1:p.Arg516Gln | |
| ENST00000696329.1:n.2868G>A | ||
| ENST00000696330.1:c.3284G>A | ENSP00000512564.1:p.Arg1095Gln | |
| ENST00000696336.1:c.*238G>A | ENSP00000512568.1:n.*238G>A | |
| ENST00000696337.1:n.3097G>A | ||
| ENST00000268206.12:c.3284G>A MANE Select | ENSP00000268206.7:p.Arg1095Gln | |
| ENST00000650113.1:c.*2190G>A | ENSP00000497919.1:n.*2190G>A | |
| ENST00000268206.11:c.3284G>A | ENSP00000268206.7:p.Arg1095Gln | |
| ENST00000359445.7:c.3131G>A | ENSP00000352418.3:p.Arg1044Gln | |
| NM_001040610.2:c.3131G>A | NP_001035700.1:p.Arg1044Gln | |
| NM_024580.5:c.3284G>A | NP_078856.4:p.Arg1095Gln | |
| XM_011521998.1:c.3284G>A | XP_011520300.1:p.Arg1095Gln | |
| XM_011521999.1:c.2495G>A | XP_011520301.1:p.Arg832Gln | |
| XM_011522000.1:c.2495G>A | XP_011520302.1:p.Arg832Gln | |
| XR_931901.1:n.3467G>A | ||
| NM_001322844.1:c.2495G>A | NP_001309773.1:p.Arg832Gln | |
| NM_001322845.1:c.3284G>A | NP_001309774.1:p.Arg1095Gln | |
| NR_136410.1:n.3467G>A | ||
| XM_024450048.1:c.1676G>A | XP_024305816.1:p.Arg559Gln | |
| NM_024580.6:c.3284G>A MANE Select | NP_078856.4:p.Arg1095Gln | |
| NM_001040610.3:c.3131G>A | NP_001035700.1:p.Arg1044Gln | |
| NM_001322844.2:c.2495G>A | NP_001309773.1:p.Arg832Gln | |
| NM_001322845.2:c.3284G>A | NP_001309774.1:p.Arg1095Gln | |
| NR_136410.2:n.3438G>A |