Linked Data
ClinVar Variation Id:
66545
dbSNP Id:
rs12812669
ExAC:
12:52682141 G / A
gnomAD v2:
12-52682141-G-A
gnomAD v3:
12-52288357-G-A
gnomAD v4:
12-52288357-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52288357G>A , CM000674.2:g.52288357G>A | GRCh38 |
| NC_000012.11:g.52682141G>A , CM000674.1:g.52682141G>A | GRCh37 |
| NC_000012.10:g.50968408G>A | NCBI36 |
| NG_008184.1:g.8159C>T | |
| NG_008086.2:g.18713G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423955.7:c.-5+12411G>A (KRT86) MANE Select | ENSP00000444533.1:n.-5+12411G>A | |
| ENST00000327741.9:c.735+4C>T (KRT81) MANE Select | ENSP00000369349.4:n.735+4C>T | |
| ENST00000423955.6:c.-5+12411G>A (KRT86) | ENSP00000444533.1:n.-5+12411G>A | |
| ENST00000553310.6:c.-4-13556G>A (KRT86) | ENSP00000452237.3:n.-4-13556G>A | |
| ENST00000615839.1:c.735+4C>T (KRT81) | ENSP00000483796.1:n.735+4C>T | |
| NM_002281.3:c.735+4C>T (KRT81) | NP_002272.2:n.735+4C>T | |
| XM_005268866.3:c.129+12411G>A (KRT86) | XP_005268923.1:n.129+12411G>A | |
| XM_011538334.1:c.735+4C>T (KRT81) | XP_011536636.1:n.735+4C>T | |
| XM_011538336.1:c.-5+12411G>A (KRT86) | XP_011536638.1:n.-5+12411G>A | |
| XM_011538337.1:c.-5+12411G>A (KRT86) | XP_011536639.1:n.-5+12411G>A | |
| XM_011538338.1:c.-5+12411G>A (KRT86) | XP_011536640.1:n.-5+12411G>A | |
| NM_001320198.1:c.-5+12411G>A (KRT86) | NP_001307127.1:n.-5+12411G>A | |
| XM_005268866.4:c.129+12411G>A (KRT86) | XP_005268923.1:n.129+12411G>A | |
| XM_017019296.1:c.-103+12411G>A (KRT86) | XP_016874785.1:n.-103+12411G>A | |
| NM_001320198.2:c.-5+12411G>A (KRT86) MANE Select | NP_001307127.1:n.-5+12411G>A | |
| NM_002281.4:c.735+4C>T (KRT81) MANE Select | NP_002272.2:n.735+4C>T |