Linked Data
ClinVar Variation Id:
14585
dbSNP Id:
rs57758506
ExAC:
12:53343340 A / T
gnomAD v2:
12-53343340-A-T
gnomAD v3:
12-52949556-A-T
gnomAD v4:
12-52949556-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52949556A>T , CM000674.2:g.52949556A>T | GRCh38 |
| NC_000012.11:g.53343340A>T , CM000674.1:g.53343340A>T | GRCh37 |
| NC_000012.10:g.51629607A>T | NCBI36 |
| NG_008351.1:g.5686A>T | |
| NG_008402.2:g.5311T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388835.4:c.383A>T (KRT18) MANE Select | ENSP00000373487.3:p.His128Leu | |
| ENST00000388835.3:c.383A>T (KRT18) | ENSP00000373487.3:p.His128Leu | |
| ENST00000388837.6:c.383A>T (KRT18) | ENSP00000373489.2:p.His128Leu | |
| ENST00000546826.5:c.-147T>A (KRT8) | ENSP00000447881.1:n.-147T>A | |
| ENST00000546897.5:c.-47+159T>A (KRT8) | ENSP00000447402.1:n.-47+159T>A | |
| ENST00000546921.1:n.241-39T>A (KRT8) | ||
| ENST00000548998.5:c.13-39T>A (KRT8) | ENSP00000447040.1:n.13-39T>A | |
| ENST00000549078.5:n.430A>T (KRT18) | ||
| ENST00000549198.1:n.147T>A (KRT8) | ||
| ENST00000550600.5:c.383A>T (KRT18) | ENSP00000447278.1:p.His128Leu | |
| ENST00000551318.1:n.229T>A (KRT8) | ||
| ENST00000552551.5:c.-147T>A (KRT8) | ENSP00000447566.1:n.-147T>A | |
| ENST00000619952.2:c.13-39T>A (KRT8) | ENSP00000489174.1:n.13-39T>A | |
| NM_000224.2:c.383A>T (KRT18) | NP_000215.1:p.His128Leu | |
| NM_001256293.1:c.-47+159T>A (KRT8) | NP_001243222.1:n.-47+159T>A | |
| NM_199187.1:c.383A>T (KRT18) | NP_954657.1:p.His128Leu | |
| NR_045962.1:n.311T>A (KRT8) | ||
| NM_000224.3:c.383A>T (KRT18) MANE Select | NP_000215.1:p.His128Leu | |
| NM_001256293.2:c.-47+159T>A (KRT8) | NP_001243222.1:n.-47+159T>A | |
| NR_045962.2:n.305T>A (KRT8) | ||
| NM_199187.2:c.383A>T (KRT18) | NP_954657.1:p.His128Leu |