Linked Data
ClinVar Variation Id:
2622102
ClinVar RCV Id:
RCV003386716
dbSNP Id:
rs751809847
ExAC:
16:70515356 G / A
gnomAD v2:
16-70515356-G-A
gnomAD v3:
16-70481453-G-A
gnomAD v4:
16-70481453-G-A
COSMIC:
COSM4623406
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70481453G>A , CM000678.2:g.70481453G>A | GRCh38 |
| NC_000016.9:g.70515356G>A , CM000678.1:g.70515356G>A | GRCh37 |
| NC_000016.8:g.69072857G>A | NCBI36 |
| NG_027529.1:g.47102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*2217C>T | ENSP00000461912.2:n.*2217C>T | |
| ENST00000703106.1:c.2186C>T | ENSP00000515173.1:n.2186C>T | |
| ENST00000703107.1:c.*2070C>T | ENSP00000515174.1:n.*2070C>T | |
| ENST00000703108.1:c.*589C>T | ENSP00000515175.1:n.*589C>T | |
| ENST00000703109.1:c.2174C>T | ENSP00000515176.1:p.Ser725Leu | |
| ENST00000703110.1:c.*1643C>T | ENSP00000515177.1:n.*1643C>T | |
| ENST00000703111.1:n.2424C>T | ||
| ENST00000703112.1:n.3085C>T | ||
| ENST00000703113.1:c.*1554C>T | ENSP00000515178.1:n.*1554C>T | |
| ENST00000703114.1:c.*790C>T | ENSP00000515179.1:n.*790C>T | |
| ENST00000703115.1:c.1254C>T | ENSP00000515180.1:n.1254C>T | |
| ENST00000323786.10:c.2141C>T MANE Select | ENSP00000315775.5:p.Ser714Leu | |
| ENST00000564415.6:c.*1921C>T | ENSP00000456653.2:n.*1921C>T | |
| ENST00000674443.1:c.2066C>T | ENSP00000501405.1:p.Ser689Leu | |
| ENST00000323786.9:c.2141C>T | ENSP00000315775.5:p.Ser714Leu | |
| ENST00000393612.8:c.2078C>T | ENSP00000377236.5:p.Ser693Leu | |
| ENST00000482252.5:c.2288C>T | ENSP00000432802.1:n.2288C>T | |
| ENST00000526700.5:n.1317C>T | ||
| ENST00000530314.5:n.2820C>T | ||
| ENST00000564415.5:c.*1921C>T | ENSP00000456653.1:n.*1921C>T | |
| ENST00000565715.1:c.203C>T | ENSP00000455693.1:p.Ser68Leu | |
| NM_001195139.1:c.2078C>T | NP_001182068.1:p.Ser693Leu | |
| NM_015386.2:c.2141C>T | NP_056201.2:p.Ser714Leu | |
| XM_011522981.1:c.1715C>T | XP_011521283.1:p.Ser572Leu | |
| XM_011522981.3:c.1715C>T | XP_011521283.1:p.Ser572Leu | |
| XM_024450224.1:c.1160C>T | XP_024305992.1:p.Ser387Leu | |
| XR_933266.2:n.2087C>T | ||
| NM_015386.3:c.2141C>T MANE Select | NP_056201.2:p.Ser714Leu | |
| NM_001195139.2:c.2066C>T | NP_001182068.2:p.Ser689Leu | |
| NM_001365426.1:c.1715C>T | NP_001352355.1:p.Ser572Leu | |
| NR_158212.1:n.2100C>T |