Linked Data
ClinVar Variation Id:
516766
dbSNP Id:
rs5756795
ExAC:
22:38122122 T / C
gnomAD v2:
22-38122122-T-C
gnomAD v3:
22-37726115-T-C
gnomAD v4:
22-37726115-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37726115T>C , CM000684.2:g.37726115T>C | GRCh38 |
| NC_000022.10:g.38122122T>C , CM000684.1:g.38122122T>C | GRCh37 |
| NC_000022.9:g.36452068T>C | NCBI36 |
| NG_012857.1:g.34128T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.3559T>C MANE Select | ENSP00000496394.1:p.Phe1187Leu | |
| ENST00000344404.10:c.*3042T>C | ENSP00000340312.6:n.*3042T>C | |
| ENST00000406386.7:c.3559T>C | ENSP00000384312.3:p.Phe1187Leu | |
| ENST00000455236.4:c.4516T>C | ENSP00000477208.1:n.4516T>C | |
| ENST00000492485.5:n.3493T>C | ||
| NM_001039141.2:c.3559T>C | NP_001034230.1:p.Phe1187Leu | |
| NM_001039141.3:c.3559T>C MANE Select | NP_001034230.1:p.Phe1187Leu |