Linked Data
ClinVar Variation Id:
215370
ClinVar RCV Id:
RCV000198824
RCV001152301
RCV001152302
RCV001722100
RCV003147401
RCV004530177
RCV002517277
dbSNP Id:
rs71526461
ExAC:
4:6303869 T / C
gnomAD v2:
4-6303869-T-C
gnomAD v3:
4-6302142-T-C
gnomAD v4:
4-6302142-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302142T>C , CM000666.2:g.6302142T>C | GRCh38 |
| NC_000004.11:g.6303869T>C , CM000666.1:g.6303869T>C | GRCh37 |
| NC_000004.10:g.6354770T>C | NCBI36 |
| NG_011700.1:g.37293T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2383T>C | ENSP00000507852.1:p.Phe795Leu | |
| ENST00000683395.1:c.2324T>C | ||
| ENST00000684087.1:c.2347T>C | ENSP00000506978.1:p.Phe783Leu | |
| ENST00000506362.2:c.2098T>C | ENSP00000424103.2:p.Phe700Leu | |
| ENST00000673642.1:c.2006T>C | ENSP00000501242.1:n.2006T>C | |
| ENST00000673991.1:c.2383T>C | ENSP00000501033.1:p.Phe795Leu | |
| ENST00000226760.5:c.2347T>C MANE Select | ENSP00000226760.1:p.Phe783Leu | |
| ENST00000503569.5:c.2347T>C | ENSP00000423337.1:p.Phe783Leu | |
| ENST00000507765.1:n.2532T>C | ||
| NM_001145853.1:c.2347T>C | NP_001139325.1:p.Phe783Leu | |
| NM_006005.3:c.2347T>C MANE Select | NP_005996.2:p.Phe783Leu | |
| XM_017008586.1:c.2356T>C | XP_016864075.1:p.Phe786Leu |