Linked Data
ClinVar Variation Id:
538510
dbSNP Id:
rs56262445
ExAC:
12:1017947 C / T
gnomAD v2:
12-1017947-C-T
gnomAD v3:
12-908781-C-T
gnomAD v4:
12-908781-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.908781C>T , CM000674.2:g.908781C>T | GRCh38 |
| NC_000012.11:g.1017947C>T , CM000674.1:g.1017947C>T | GRCh37 |
| NC_000012.10:g.888208C>T | NCBI36 |
| NG_007984.2:g.160723C>T | |
| NG_007984.3:g.160723C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.7138C>T MANE Select | ENSP00000313059.6:p.Arg2380Trp | |
| ENST00000340908.9:c.7894C>T MANE Plus Clinical | ENSP00000341292.5:p.Arg2632Trp | |
| ENST00000675631.1:c.5917C>T | ENSP00000502415.1:p.Arg1973Trp | |
| ENST00000676347.1:c.4585C>T | ENSP00000501875.1:p.Arg1529Trp | |
| ENST00000315939.10:c.7138C>T | ENSP00000313059.6:p.Arg2380Trp | |
| ENST00000340908.8:c.7894C>T | ENSP00000341292.5:p.Arg2632Trp | |
| ENST00000530271.6:c.8491C>T | ENSP00000433548.3:p.Arg2831Trp | |
| ENST00000535572.5:c.6394C>T | ENSP00000441972.1:p.Arg2132Trp | |
| ENST00000537687.5:c.7918C>T | ENSP00000444465.1:p.Arg2640Trp | |
| ENST00000540885.1:n.622C>T | ||
| NM_001184985.1:c.7918C>T | NP_001171914.1:p.Arg2640Trp | |
| NM_014823.2:c.6394C>T | NP_055638.2:p.Arg2132Trp | |
| NM_018979.3:c.7138C>T | NP_061852.3:p.Arg2380Trp | |
| NM_213655.4:c.7894C>T | NP_998820.3:p.Arg2632Trp | |
| XM_006719003.1:c.7135C>T | XP_006719066.1:p.Arg2379Trp | |
| XM_011520997.1:c.8377C>T | XP_011519299.1:p.Arg2793Trp | |
| XM_011520998.1:c.8374C>T | XP_011519300.1:p.Arg2792Trp | |
| XM_011520999.1:c.8374C>T | XP_011519301.1:p.Arg2792Trp | |
| XM_011521000.1:c.8182C>T | XP_011519302.1:p.Arg2728Trp | |
| XM_011521001.1:c.8098C>T | XP_011519303.1:p.Arg2700Trp | |
| XM_011521002.1:c.7915C>T | XP_011519304.1:p.Arg2639Trp | |
| XM_011521003.1:c.7639C>T | XP_011519305.1:p.Arg2547Trp | |
| XM_011521004.1:c.7636C>T | XP_011519306.1:p.Arg2546Trp | |
| XM_011521005.1:c.7156C>T | XP_011519307.1:p.Arg2386Trp | |
| XM_011521006.1:c.7054C>T | XP_011519308.1:p.Arg2352Trp | |
| XM_011521007.1:c.7051C>T | XP_011519309.1:p.Arg2351Trp | |
| XM_011521008.1:c.6316C>T | XP_011519310.1:p.Arg2106Trp | |
| XM_011521009.1:c.6313C>T | XP_011519311.1:p.Arg2105Trp | |
| XM_006719003.2:c.7135C>T | XP_006719066.1:p.Arg2379Trp | |
| XM_011520997.3:c.8377C>T | XP_011519299.1:p.Arg2793Trp | |
| XM_011520998.2:c.8374C>T | XP_011519300.1:p.Arg2792Trp | |
| XM_011520999.2:c.8374C>T | XP_011519301.1:p.Arg2792Trp | |
| XM_011521000.2:c.8182C>T | XP_011519302.1:p.Arg2728Trp | |
| XM_011521001.2:c.8098C>T | XP_011519303.1:p.Arg2700Trp | |
| XM_011521002.2:c.7915C>T | XP_011519304.1:p.Arg2639Trp | |
| XM_011521003.2:c.7639C>T | XP_011519305.1:p.Arg2547Trp | |
| XM_011521004.2:c.7636C>T | XP_011519306.1:p.Arg2546Trp | |
| XM_011521005.2:c.7156C>T | XP_011519307.1:p.Arg2386Trp | |
| XM_011521006.2:c.7054C>T | XP_011519308.1:p.Arg2352Trp | |
| XM_011521007.2:c.7051C>T | XP_011519309.1:p.Arg2351Trp | |
| XM_011521008.2:c.6316C>T | XP_011519310.1:p.Arg2106Trp | |
| XM_011521009.2:c.6313C>T | XP_011519311.1:p.Arg2105Trp | |
| XM_017019834.1:c.6676C>T | XP_016875323.1:p.Arg2226Trp | |
| XM_017019835.1:c.6595C>T | XP_016875324.1:p.Arg2199Trp | |
| XM_017019836.1:c.6592C>T | XP_016875325.1:p.Arg2198Trp | |
| XM_017019837.1:c.6400C>T | XP_016875326.1:p.Arg2134Trp | |
| XM_017019838.1:c.6397C>T | XP_016875327.1:p.Arg2133Trp | |
| XM_017019839.1:c.6121C>T | XP_016875328.1:p.Arg2041Trp | |
| NM_018979.4:c.7138C>T MANE Select | NP_061852.3:p.Arg2380Trp | |
| NM_014823.3:c.6394C>T | NP_055638.2:p.Arg2132Trp | |
| NM_001184985.2:c.7918C>T | NP_001171914.1:p.Arg2640Trp | |
| NM_213655.5:c.7894C>T MANE Plus Clinical | NP_998820.3:p.Arg2632Trp |