Revel Score:
ENST00000436693
0.005
ENST00000381950
0.005
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38828211T>G , CM000666.2:g.38828211T>G | GRCh38 |
| NC_000004.11:g.38829832T>G , CM000666.1:g.38829832T>G | GRCh37 |
| NC_000004.10:g.38506227T>G | NCBI36 |
| NG_028087.1:g.33607A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381950.2:c.1263A>C (TLR6) | ENSP00000371376.1:p.Lys421Asn | |
| ENST00000508254.6:c.1263A>C (TLR6) MANE Select | ENSP00000424718.2:p.Lys421Asn | |
| ENST00000381950.1:c.1263A>C (TLR6) | ENSP00000371376.1:p.Lys421Asn | |
| ENST00000436693.6:c.1263A>C (TLR6) | ENSP00000389600.2:p.Lys421Asn | |
| ENST00000506146.5:c.-352-23018A>C (TLR1) | ENSP00000423725.1:n.-352-23018A>C | |
| ENST00000610323.2:c.1146+117A>C (TLR6) | ENSP00000480266.1:n.1146+117A>C | |
| NM_006068.4:c.1263A>C (TLR6) | NP_006059.2:p.Lys421Asn | |
| XM_005262637.3:c.1263A>C (TLR6) | XP_005262694.1:p.Lys421Asn | |
| XM_011513612.1:c.1263A>C (TLR6) | XP_011511914.1:p.Lys421Asn | |
| XM_011513613.1:c.1263A>C (TLR6) | XP_011511915.1:p.Lys421Asn | |
| XM_011513614.1:c.1263A>C (TLR6) | XP_011511916.1:p.Lys421Asn | |
| XM_005262637.5:c.1263A>C (TLR6) | XP_005262694.1:p.Lys421Asn | |
| XM_011513613.3:c.1263A>C (TLR6) | XP_011511915.1:p.Lys421Asn | |
| XM_011513614.3:c.1263A>C (TLR6) | XP_011511916.1:p.Lys421Asn | |
| XM_024453873.1:c.1263A>C (TLR6) | XP_024309641.1:p.Lys421Asn | |
| NM_006068.5:c.1263A>C (TLR6) MANE Select | NP_006059.2:p.Lys421Asn | |
| NM_001394553.1:c.1263A>C (TLR6) | NP_001381482.1:p.Lys421Asn |