Linked Data
ClinVar Variation Id:
1665424
ClinVar RCV Id:
RCV002184113
dbSNP Id:
rs550175629
ExAC:
11:17634198 C / T
gnomAD v2:
11-17634198-C-T
gnomAD v3:
11-17612651-C-T
gnomAD v4:
11-17612651-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17612651C>T , CM000673.2:g.17612651C>T | GRCh38 |
| NC_000011.9:g.17634198C>T , CM000673.1:g.17634198C>T | GRCh37 |
| NC_000011.8:g.17590774C>T | NCBI36 |
| NG_033191.1:g.70279C>T | |
| NG_033191.2:g.70279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.6360C>T | ENSP00000382323.2:p.Phe2120= | |
| ENST00000399397.6:c.6324C>T MANE Select | ENSP00000382329.2:p.Phe2108= | |
| ENST00000342528.2:c.3378C>T | ENSP00000341666.2:p.Phe1126= | |
| ENST00000399391.6:c.6360C>T | ENSP00000382323.2:p.Phe2120= | |
| ENST00000399397.5:c.6324C>T | ENSP00000382329.2:p.Phe2108= | |
| NM_001277269.1:c.6360C>T | NP_001264198.1:p.Phe2120= | |
| NM_001292063.1:c.6324C>T | NP_001278992.1:p.Phe2108= | |
| NM_001277269.2:c.6360C>T | NP_001264198.1:p.Phe2120= | |
| NM_001292063.2:c.6324C>T MANE Select | NP_001278992.1:p.Phe2108= |