ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000442011 (MANE Select)
0.987
ENST00000398813
0.987
ENST00000305126
0.987
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136056736T>C , CM000667.2:g.136056736T>C | GRCh38 |
| NC_000005.9:g.135392425T>C , CM000667.1:g.135392425T>C | GRCh37 |
| NC_000005.8:g.135420324T>C | NCBI36 |
| NG_012646.1:g.32842T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1619T>C MANE Select | ENSP00000416330.2:p.Phe540Ser | |
| ENST00000442011.6:c.1619T>C | ENSP00000416330.2:p.Phe540Ser | |
| ENST00000506699.5:n.2136T>C | ||
| ENST00000507018.5:c.1597T>C | ||
| ENST00000509485.5:c.616T>C | ||
| ENST00000514242.5:n.390T>C | ||
| ENST00000514554.5:c.771T>C | ||
| NM_000358.2:c.1619T>C | NP_000349.1:p.Phe540Ser | |
| NM_000358.3:c.1619T>C MANE Select | NP_000349.1:p.Phe540Ser |