Linked Data
ClinVar Variation Id:
1253561
ClinVar RCV Id:
RCV001663118
dbSNP Id:
rs3660
gnomAD v2:
12-52679937-C-G
gnomAD v3:
12-52286153-C-G
gnomAD v4:
12-52286153-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52286153C>G , CM000674.2:g.52286153C>G | GRCh38 |
| NC_000012.11:g.52679937C>G , CM000674.1:g.52679937C>G | GRCh37 |
| NC_000012.10:g.50966204C>G | NCBI36 |
| NG_008184.1:g.10363G>C | |
| NG_008086.2:g.16509C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423955.7:c.-5+10207C>G (KRT86) MANE Select | ENSP00000444533.1:n.-5+10207C>G | |
| ENST00000327741.9:c.*102G>C (KRT81) MANE Select | ENSP00000369349.4:n.*102G>C | |
| ENST00000423955.6:c.-5+10207C>G (KRT86) | ENSP00000444533.1:n.-5+10207C>G | |
| ENST00000553310.6:c.-4-15760C>G (KRT86) | ENSP00000452237.3:n.-4-15760C>G | |
| NM_002281.3:c.*102G>C (KRT81) | NP_002272.2:n.*102G>C | |
| XM_005268866.3:c.129+10207C>G (KRT86) | XP_005268923.1:n.129+10207C>G | |
| XM_011538334.1:c.*102G>C (KRT81) | XP_011536636.1:n.*102G>C | |
| XM_011538336.1:c.-5+10207C>G (KRT86) | XP_011536638.1:n.-5+10207C>G | |
| XM_011538337.1:c.-5+10207C>G (KRT86) | XP_011536639.1:n.-5+10207C>G | |
| XM_011538338.1:c.-5+10207C>G (KRT86) | XP_011536640.1:n.-5+10207C>G | |
| NM_001320198.1:c.-5+10207C>G (KRT86) | NP_001307127.1:n.-5+10207C>G | |
| XM_005268866.4:c.129+10207C>G (KRT86) | XP_005268923.1:n.129+10207C>G | |
| XM_017019296.1:c.-103+10207C>G (KRT86) | XP_016874785.1:n.-103+10207C>G | |
| NM_001320198.2:c.-5+10207C>G (KRT86) MANE Select | NP_001307127.1:n.-5+10207C>G | |
| NM_002281.4:c.*102G>C (KRT81) MANE Select | NP_002272.2:n.*102G>C |