Linked Data
ClinVar Variation Id:
66549
ClinVar RCV Id:
RCV000056964
dbSNP Id:
rs58580222
ExAC:
12:52696048 G / A
gnomAD v2:
12-52696048-G-A
gnomAD v3:
12-52302264-G-A
gnomAD v4:
12-52302264-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52302264G>A , CM000674.2:g.52302264G>A | GRCh38 |
| NC_000012.11:g.52696048G>A , CM000674.1:g.52696048G>A | GRCh37 |
| NC_000012.10:g.50982315G>A | NCBI36 |
| NG_008086.1:g.5400G>A | |
| NG_008086.2:g.32620G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423955.7:c.348G>A (KRT86) MANE Select | ENSP00000444533.1:p.Arg116= | |
| ENST00000293525.5:c.348G>A (KRT86) | ENSP00000293525.5:p.Arg116= | |
| ENST00000423955.6:c.348G>A (KRT86) | ENSP00000444533.1:p.Arg116= | |
| ENST00000553310.6:c.348G>A (KRT86) | ENSP00000452237.3:p.Arg116= | |
| NM_002284.3:c.348G>A (KRT86) | NP_002275.1:p.Arg116= | |
| XM_005268866.3:c.579G>A (KRT86) | XP_005268923.1:p.Arg193= | |
| XM_011538334.1:c.-211-620C>T (KRT81) | XP_011536636.1:n.-211-620C>T | |
| XM_011538336.1:c.348G>A (KRT86) | XP_011536638.1:p.Arg116= | |
| XM_011538337.1:c.348G>A (KRT86) | XP_011536639.1:p.Arg116= | |
| XM_011538338.1:c.348G>A (KRT86) | XP_011536640.1:p.Arg116= | |
| NM_001320198.1:c.348G>A (KRT86) | NP_001307127.1:p.Arg116= | |
| XM_005268866.4:c.579G>A (KRT86) | XP_005268923.1:p.Arg193= | |
| XM_017019296.1:c.348G>A (KRT86) | XP_016874785.1:p.Arg116= | |
| NM_001320198.2:c.348G>A (KRT86) MANE Select | NP_001307127.1:p.Arg116= |