Linked Data
ClinVar Variation Id:
559180
ClinVar RCV Id:
RCV000676339
dbSNP Id:
rs36041021
ExAC:
16:2035907 T / C
gnomAD v2:
16-2035907-T-C
gnomAD v3:
16-1985906-T-C
gnomAD v4:
16-1985906-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985906T>C , CM000678.2:g.1985906T>C | GRCh38 |
| NC_000016.9:g.2035907T>C , CM000678.1:g.2035907T>C | GRCh37 |
| NC_000016.8:g.1975908T>C | NCBI36 |
| NG_016288.1:g.6758T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.271T>C | ENSP00000455885.1:p.Phe91Leu | |
| ENST00000248114.7:c.496T>C MANE Select | ENSP00000248114.6:p.Phe166Leu | |
| ENST00000248114.6:c.496T>C | ENSP00000248114.6:p.Phe166Leu | |
| ENST00000565658.1:n.653T>C | ||
| ENST00000567719.1:c.271T>C | ENSP00000455885.1:p.Phe91Leu | |
| ENST00000569451.1:c.299T>C | ENSP00000456432.1:p.Leu100Pro | |
| NM_005262.2:c.496T>C | NP_005253.3:p.Phe166Leu | |
| NM_005262.3:c.496T>C MANE Select | NP_005253.3:p.Phe166Leu |