Linked Data
dbSNP Id:
rs201484793
ExAC:
12:52699886 G / C
gnomAD v2:
12-52699886-G-C
gnomAD v3:
12-52306102-G-C
gnomAD v4:
12-52306102-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52306102G>C , CM000674.2:g.52306102G>C | GRCh38 |
| NC_000012.11:g.52699886G>C , CM000674.1:g.52699886G>C | GRCh37 |
| NC_000012.10:g.50986153G>C | NCBI36 |
| NG_008086.1:g.9238G>C | |
| NG_008086.2:g.36458G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423955.7:c.1069G>C (KRT86) MANE Select | ENSP00000444533.1:p.Gly357Arg | |
| ENST00000293525.5:c.1069G>C (KRT86) | ENSP00000293525.5:p.Gly357Arg | |
| ENST00000423955.6:c.1069G>C (KRT86) | ENSP00000444533.1:p.Gly357Arg | |
| NM_002284.3:c.1069G>C (KRT86) | NP_002275.1:p.Gly357Arg | |
| XM_005268866.3:c.1300G>C (KRT86) | XP_005268923.1:p.Gly434Arg | |
| XM_011538334.1:c.-212+2109C>G (KRT81) | XP_011536636.1:n.-212+2109C>G | |
| XM_011538336.1:c.1069G>C (KRT86) | XP_011536638.1:p.Gly357Arg | |
| XM_011538337.1:c.1069G>C (KRT86) | XP_011536639.1:p.Gly357Arg | |
| XM_011538338.1:c.1069G>C (KRT86) | XP_011536640.1:p.Gly357Arg | |
| NM_001320198.1:c.1069G>C (KRT86) | NP_001307127.1:p.Gly357Arg | |
| XM_005268866.4:c.1300G>C (KRT86) | XP_005268923.1:p.Gly434Arg | |
| XM_017019296.1:c.1069G>C (KRT86) | XP_016874785.1:p.Gly357Arg | |
| NM_001320198.2:c.1069G>C (KRT86) MANE Select | NP_001307127.1:p.Gly357Arg |