Linked Data
dbSNP Id:
rs1437546938
gnomAD v2:
12-52699848-C-T
gnomAD v4:
12-52306064-C-T
COSMIC:
COSM3462207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52306064C>T , CM000674.2:g.52306064C>T | GRCh38 |
| NC_000012.11:g.52699848C>T , CM000674.1:g.52699848C>T | GRCh37 |
| NC_000012.10:g.50986115C>T | NCBI36 |
| NG_008086.1:g.9200C>T | |
| NG_008086.2:g.36420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423955.7:c.1031C>T (KRT86) MANE Select | ENSP00000444533.1:p.Ser344Phe | |
| ENST00000293525.5:c.1031C>T (KRT86) | ENSP00000293525.5:p.Ser344Phe | |
| ENST00000423955.6:c.1031C>T (KRT86) | ENSP00000444533.1:p.Ser344Phe | |
| NM_002284.3:c.1031C>T (KRT86) | NP_002275.1:p.Ser344Phe | |
| XM_005268866.3:c.1262C>T (KRT86) | XP_005268923.1:p.Ser421Phe | |
| XM_011538334.1:c.-212+2147G>A (KRT81) | XP_011536636.1:n.-212+2147G>A | |
| XM_011538336.1:c.1031C>T (KRT86) | XP_011536638.1:p.Ser344Phe | |
| XM_011538337.1:c.1031C>T (KRT86) | XP_011536639.1:p.Ser344Phe | |
| XM_011538338.1:c.1031C>T (KRT86) | XP_011536640.1:p.Ser344Phe | |
| NM_001320198.1:c.1031C>T (KRT86) | NP_001307127.1:p.Ser344Phe | |
| XM_005268866.4:c.1262C>T (KRT86) | XP_005268923.1:p.Ser421Phe | |
| XM_017019296.1:c.1031C>T (KRT86) | XP_016874785.1:p.Ser344Phe | |
| NM_001320198.2:c.1031C>T (KRT86) MANE Select | NP_001307127.1:p.Ser344Phe |