Linked Data
ClinVar Variation Id:
1393372
ClinVar RCV Id:
RCV001898272
dbSNP Id:
rs754237014
ExAC:
16:1412870 G / C
gnomAD v2:
16-1412870-G-C
gnomAD v3:
16-1362869-G-C
gnomAD v4:
16-1362869-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362869G>C , CM000678.2:g.1362869G>C | GRCh38 |
| NC_000016.9:g.1412870G>C , CM000678.1:g.1412870G>C | GRCh37 |
| NC_000016.8:g.1352871G>C | NCBI36 |
| NG_016985.1:g.15971G>C | |
| NG_033129.1:g.56836C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.885G>C | ||
| ENST00000529110.2:c.870G>C | ENSP00000435349.2:p.Leu290Phe | |
| ENST00000529957.6:n.844G>C | ||
| ENST00000683366.1:c.*518G>C | ENSP00000507283.1:n.*518G>C | |
| ENST00000683887.1:c.834G>C | ENSP00000506886.1:p.Leu278Phe | |
| ENST00000684100.1:n.780G>C | ||
| ENST00000684126.1:n.920G>C | ||
| ENST00000684688.1:n.1411G>C | ||
| ENST00000204679.9:c.786G>C MANE Select | ENSP00000204679.4:p.Leu262Phe | |
| ENST00000204679.8:c.786G>C | ENSP00000204679.4:p.Leu262Phe | |
| ENST00000527076.1:n.2009G>C | ||
| ENST00000527168.5:n.953G>C | ||
| ENST00000529957.5:n.885G>C | ||
| NM_032520.4:c.786G>C | NP_115909.1:p.Leu262Phe | |
| XM_017023782.1:c.834G>C | XP_016879271.1:p.Leu278Phe | |
| XM_017023783.1:c.426G>C | XP_016879272.1:p.Leu142Phe | |
| NM_032520.5:c.786G>C MANE Select | NP_115909.1:p.Leu262Phe |