Linked Data
ClinVar Variation Id:
66547
ClinVar RCV Id:
RCV000056961
dbSNP Id:
rs57242951
ExAC:
12:52695897 G / A
gnomAD v2:
12-52695897-G-A
gnomAD v3:
12-52302113-G-A
gnomAD v4:
12-52302113-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52302113G>A , CM000674.2:g.52302113G>A | GRCh38 |
| NC_000012.11:g.52695897G>A , CM000674.1:g.52695897G>A | GRCh37 |
| NC_000012.10:g.50982164G>A | NCBI36 |
| NG_008086.1:g.5249G>A | |
| NG_008086.2:g.32469G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423955.7:c.197G>A (KRT86) MANE Select | ENSP00000444533.1:p.Arg66His | |
| ENST00000293525.5:c.197G>A (KRT86) | ENSP00000293525.5:p.Arg66His | |
| ENST00000423955.6:c.197G>A (KRT86) | ENSP00000444533.1:p.Arg66His | |
| ENST00000553310.6:c.197G>A (KRT86) | ENSP00000452237.3:p.Arg66His | |
| NM_002284.3:c.197G>A (KRT86) | NP_002275.1:p.Arg66His | |
| XM_005268866.3:c.428G>A (KRT86) | XP_005268923.1:p.Arg143His | |
| XM_011538334.1:c.-211-469C>T (KRT81) | XP_011536636.1:n.-211-469C>T | |
| XM_011538336.1:c.197G>A (KRT86) | XP_011536638.1:p.Arg66His | |
| XM_011538337.1:c.197G>A (KRT86) | XP_011536639.1:p.Arg66His | |
| XM_011538338.1:c.197G>A (KRT86) | XP_011536640.1:p.Arg66His | |
| NM_001320198.1:c.197G>A (KRT86) | NP_001307127.1:p.Arg66His | |
| XM_005268866.4:c.428G>A (KRT86) | XP_005268923.1:p.Arg143His | |
| XM_017019296.1:c.197G>A (KRT86) | XP_016874785.1:p.Arg66His | |
| NM_001320198.2:c.197G>A (KRT86) MANE Select | NP_001307127.1:p.Arg66His |