Linked Data
ClinVar Variation Id:
7501
dbSNP Id:
rs57419521
gnomAD v2:
12-52680896-C-T
gnomAD v4:
12-52287112-C-T
COSMIC:
COSM162065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52287112C>T , CM000674.2:g.52287112C>T | GRCh38 |
| NC_000012.11:g.52680896C>T , CM000674.1:g.52680896C>T | GRCh37 |
| NC_000012.10:g.50967163C>T | NCBI36 |
| NG_008184.1:g.9404G>A | |
| NG_008086.2:g.17468C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423955.7:c.-5+11166C>T (KRT86) MANE Select | ENSP00000444533.1:n.-5+11166C>T | |
| ENST00000327741.9:c.1237G>A (KRT81) MANE Select | ENSP00000369349.4:p.Glu413Lys | |
| ENST00000423955.6:c.-5+11166C>T (KRT86) | ENSP00000444533.1:n.-5+11166C>T | |
| ENST00000553310.6:c.-4-14801C>T (KRT86) | ENSP00000452237.3:n.-4-14801C>T | |
| ENST00000615839.1:c.1237G>A (KRT81) | ENSP00000483796.1:p.Glu413Lys | |
| NM_002281.3:c.1237G>A (KRT81) | NP_002272.2:p.Glu413Lys | |
| XM_005268866.3:c.129+11166C>T (KRT86) | XP_005268923.1:n.129+11166C>T | |
| XM_011538334.1:c.1237G>A (KRT81) | XP_011536636.1:p.Glu413Lys | |
| XM_011538336.1:c.-5+11166C>T (KRT86) | XP_011536638.1:n.-5+11166C>T | |
| XM_011538337.1:c.-5+11166C>T (KRT86) | XP_011536639.1:n.-5+11166C>T | |
| XM_011538338.1:c.-5+11166C>T (KRT86) | XP_011536640.1:n.-5+11166C>T | |
| NM_001320198.1:c.-5+11166C>T (KRT86) | NP_001307127.1:n.-5+11166C>T | |
| XM_005268866.4:c.129+11166C>T (KRT86) | XP_005268923.1:n.129+11166C>T | |
| XM_017019296.1:c.-103+11166C>T (KRT86) | XP_016874785.1:n.-103+11166C>T | |
| NM_001320198.2:c.-5+11166C>T (KRT86) MANE Select | NP_001307127.1:n.-5+11166C>T | |
| NM_002281.4:c.1237G>A (KRT81) MANE Select | NP_002272.2:p.Glu413Lys |