Linked Data
ClinVar Variation Id:
320784
ClinVar RCV Id:
RCV000339757
dbSNP Id:
rs4150186
gnomAD v2:
16-84211514-T-C
gnomAD v3:
16-84177908-T-C
gnomAD v4:
16-84177908-T-C
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84177908T>C , CM000678.2:g.84177908T>C | GRCh38 |
| NC_000016.9:g.84211514T>C , CM000678.1:g.84211514T>C | GRCh37 |
| NC_000016.8:g.82769015T>C | NCBI36 |
| NG_021174.1:g.37650T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378553.10:c.*67T>C (DNAAF1) MANE Select | ENSP00000367815.5:n.*67T>C | |
| ENST00000566732.6:c.*1033A>G (TAF1C) MANE Select | ENSP00000455933.1:n.*1033A>G | |
| ENST00000341690.10:c.*1033A>G (TAF1C) | ENSP00000345305.6:n.*1033A>G | |
| ENST00000378553.9:c.*67T>C (DNAAF1) | ENSP00000367815.5:n.*67T>C | |
| ENST00000541676.5:c.*1033A>G (TAF1C) | ENSP00000437900.2:n.*1033A>G | |
| ENST00000562024.1:n.717T>C (DNAAF1) | ||
| ENST00000563818.5:n.1922T>C (DNAAF1) | ||
| ENST00000564208.5:n.3756A>G (TAF1C) | ||
| ENST00000564774.5:n.4583A>G (TAF1C) | ||
| ENST00000564928.1:c.160-482T>C (DNAAF1) | ||
| ENST00000566903.5:c.*1814A>G (TAF1C) | ENSP00000456133.1:n.*1814A>G | |
| ENST00000567759.5:c.*1033A>G (TAF1C) | ENSP00000455265.1:n.*1033A>G | |
| ENST00000569735.1:c.640T>C (DNAAF1) | ENSP00000454960.1:n.640T>C | |
| ENST00000570298.5:n.4698T>C (DNAAF1) | ||
| ENST00000623406.1:n.2681T>C (DNAAF1) | ||
| NM_001243156.1:c.*1033A>G (TAF1C) | NP_001230085.1:n.*1033A>G | |
| NM_001243157.1:c.*1033A>G (TAF1C) | NP_001230086.1:n.*1033A>G | |
| NM_001243158.1:c.*1033A>G (TAF1C) | NP_001230087.1:n.*1033A>G | |
| NM_001243159.1:c.*1033A>G (TAF1C) | NP_001230088.1:n.*1033A>G | |
| NM_001243160.1:c.*1033A>G (TAF1C) | NP_001230089.1:n.*1033A>G | |
| NM_005679.3:c.*1033A>G (TAF1C) | NP_005670.3:n.*1033A>G | |
| NM_139353.2:c.*1033A>G (TAF1C) | NP_647610.2:n.*1033A>G | |
| NM_178452.4:c.*67T>C (DNAAF1) | NP_848547.4:n.*67T>C | |
| XM_005256226.2:c.*1033A>G (TAF1C) | XP_005256283.1:n.*1033A>G | |
| XM_005256227.2:c.*1033A>G (TAF1C) | XP_005256284.1:n.*1033A>G | |
| XM_006721129.1:c.*67T>C (DNAAF1) | XP_006721192.1:n.*67T>C | |
| XM_006721325.2:c.*1033A>G (TAF1C) | XP_006721388.1:n.*1033A>G | |
| XM_006721326.2:c.*1033A>G (TAF1C) | XP_006721389.1:n.*1033A>G | |
| XM_011522850.1:c.*67T>C (DNAAF1) | XP_011521152.1:n.*67T>C | |
| XM_011522851.1:c.*67T>C (DNAAF1) | XP_011521153.1:n.*67T>C | |
| XM_011522852.1:c.*67T>C (DNAAF1) | XP_011521154.1:n.*67T>C | |
| XM_011522853.1:c.*67T>C (DNAAF1) | XP_011521155.1:n.*67T>C | |
| XM_011522854.1:c.*67T>C (DNAAF1) | XP_011521156.1:n.*67T>C | |
| XM_011522855.1:c.*67T>C (DNAAF1) | XP_011521157.1:n.*67T>C | |
| XM_011522856.1:c.*67T>C (DNAAF1) | XP_011521158.1:n.*67T>C | |
| XM_011522859.1:c.*67T>C (DNAAF1) | XP_011521161.1:n.*67T>C | |
| XM_011522860.1:c.*67T>C (DNAAF1) | XP_011521162.1:n.*67T>C | |
| XM_011523432.1:c.*1033A>G (TAF1C) | XP_011521734.1:n.*1033A>G | |
| NM_001318756.1:c.*67T>C (DNAAF1) | NP_001305685.1:n.*67T>C | |
| NM_178452.5:c.*67T>C (DNAAF1) | NP_848547.4:n.*67T>C | |
| XM_005256226.3:c.*1033A>G (TAF1C) | XP_005256283.1:n.*1033A>G | |
| XM_005256227.3:c.*1033A>G (TAF1C) | XP_005256284.1:n.*1033A>G | |
| XM_006721129.3:c.*67T>C (DNAAF1) | XP_006721192.1:n.*67T>C | |
| XM_006721325.3:c.*1033A>G (TAF1C) | XP_006721388.1:n.*1033A>G | |
| XM_006721326.3:c.*1033A>G (TAF1C) | XP_006721389.1:n.*1033A>G | |
| XM_011522853.3:c.*67T>C (DNAAF1) | XP_011521155.1:n.*67T>C | |
| XM_011522854.3:c.*67T>C (DNAAF1) | XP_011521156.1:n.*67T>C | |
| XM_011522855.3:c.*67T>C (DNAAF1) | XP_011521157.1:n.*67T>C | |
| XM_017022918.2:c.*67T>C (DNAAF1) | XP_016878407.1:n.*67T>C | |
| XM_017022919.1:c.*67T>C (DNAAF1) | XP_016878408.1:n.*67T>C | |
| XM_017022920.2:c.*67T>C (DNAAF1) | XP_016878409.1:n.*67T>C | |
| XM_017022921.2:c.*67T>C (DNAAF1) | XP_016878410.1:n.*67T>C | |
| XM_017022922.2:c.*67T>C (DNAAF1) | XP_016878411.1:n.*67T>C | |
| XM_017023845.1:c.*1033A>G (TAF1C) | XP_016879334.1:n.*1033A>G | |
| XM_017023846.1:c.*1033A>G (TAF1C) | XP_016879335.1:n.*1033A>G | |
| XM_017023847.1:c.*1033A>G (TAF1C) | XP_016879336.1:n.*1033A>G | |
| XR_001751829.2:n.2956T>C (DNAAF1) | ||
| XR_001751830.2:n.2950T>C (DNAAF1) | ||
| XR_001751831.2:n.2902T>C (DNAAF1) | ||
| XR_001751832.1:n.5504T>C (DNAAF1) | ||
| NM_178452.6:c.*67T>C (DNAAF1) MANE Select | NP_848547.4:n.*67T>C | |
| NM_001243156.2:c.*1033A>G (TAF1C) MANE Select | NP_001230085.2:n.*1033A>G | |
| NM_001243158.2:c.*1033A>G (TAF1C) | NP_001230087.1:n.*1033A>G | |
| NM_001243159.2:c.*1033A>G (TAF1C) | NP_001230088.1:n.*1033A>G | |
| NM_001243160.2:c.*1033A>G (TAF1C) | NP_001230089.1:n.*1033A>G | |
| NM_005679.4:c.*1033A>G (TAF1C) | NP_005670.4:n.*1033A>G | |
| NM_139353.3:c.*1033A>G (TAF1C) | NP_647610.3:n.*1033A>G | |
| NM_001243157.2:c.*1033A>G (TAF1C) | NP_001230086.1:n.*1033A>G |