ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52302256A>G , CM000674.2:g.52302256A>G | GRCh38 |
| NC_000012.11:g.52696040A>G , CM000674.1:g.52696040A>G | GRCh37 |
| NC_000012.10:g.50982307A>G | NCBI36 |
| NG_008086.1:g.5392A>G | |
| NG_008086.2:g.32612A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423955.7:c.340A>G (KRT86) MANE Select | ENSP00000444533.1:p.Asn114Asp | |
| ENST00000293525.5:c.340A>G (KRT86) | ENSP00000293525.5:p.Asn114Asp | |
| ENST00000423955.6:c.340A>G (KRT86) | ENSP00000444533.1:p.Asn114Asp | |
| ENST00000553310.6:c.340A>G (KRT86) | ENSP00000452237.3:p.Asn114Asp | |
| NM_002284.3:c.340A>G (KRT86) | NP_002275.1:p.Asn114Asp | |
| XM_005268866.3:c.571A>G (KRT86) | XP_005268923.1:p.Asn191Asp | |
| XM_011538334.1:c.-211-612T>C (KRT81) | XP_011536636.1:n.-211-612T>C | |
| XM_011538336.1:c.340A>G (KRT86) | XP_011536638.1:p.Asn114Asp | |
| XM_011538337.1:c.340A>G (KRT86) | XP_011536639.1:p.Asn114Asp | |
| XM_011538338.1:c.340A>G (KRT86) | XP_011536640.1:p.Asn114Asp | |
| NM_001320198.1:c.340A>G (KRT86) | NP_001307127.1:p.Asn114Asp | |
| XM_005268866.4:c.571A>G (KRT86) | XP_005268923.1:p.Asn191Asp | |
| XM_017019296.1:c.340A>G (KRT86) | XP_016874785.1:p.Asn114Asp | |
| NM_001320198.2:c.340A>G (KRT86) MANE Select | NP_001307127.1:p.Asn114Asp |