Linked Data
dbSNP Id:
rs773267196
ExAC:
16:70515342 G / A
gnomAD v2:
16-70515342-G-A
gnomAD v3:
16-70481439-G-A
gnomAD v4:
16-70481439-G-A
COSMIC:
COSM3511384
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70481439G>A , CM000678.2:g.70481439G>A | GRCh38 |
| NC_000016.9:g.70515342G>A , CM000678.1:g.70515342G>A | GRCh37 |
| NC_000016.8:g.69072843G>A | NCBI36 |
| NG_027529.1:g.47116C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*2231C>T | ENSP00000461912.2:n.*2231C>T | |
| ENST00000703106.1:c.2200C>T | ENSP00000515173.1:n.2200C>T | |
| ENST00000703107.1:c.*2084C>T | ENSP00000515174.1:n.*2084C>T | |
| ENST00000703108.1:c.*603C>T | ENSP00000515175.1:n.*603C>T | |
| ENST00000703109.1:c.2188C>T | ENSP00000515176.1:p.Leu730Phe | |
| ENST00000703110.1:c.*1657C>T | ENSP00000515177.1:n.*1657C>T | |
| ENST00000703111.1:n.2438C>T | ||
| ENST00000703112.1:n.3099C>T | ||
| ENST00000703113.1:c.*1568C>T | ENSP00000515178.1:n.*1568C>T | |
| ENST00000703114.1:c.*804C>T | ENSP00000515179.1:n.*804C>T | |
| ENST00000703115.1:c.1268C>T | ENSP00000515180.1:n.1268C>T | |
| ENST00000323786.10:c.2155C>T MANE Select | ENSP00000315775.5:p.Leu719Phe | |
| ENST00000564415.6:c.*1935C>T | ENSP00000456653.2:n.*1935C>T | |
| ENST00000674443.1:c.2080C>T | ENSP00000501405.1:p.Leu694Phe | |
| ENST00000323786.9:c.2155C>T | ENSP00000315775.5:p.Leu719Phe | |
| ENST00000393612.8:c.2092C>T | ENSP00000377236.5:p.Leu698Phe | |
| ENST00000482252.5:c.2302C>T | ENSP00000432802.1:n.2302C>T | |
| ENST00000526700.5:n.1331C>T | ||
| ENST00000530314.5:n.2834C>T | ||
| ENST00000564415.5:c.*1935C>T | ENSP00000456653.1:n.*1935C>T | |
| ENST00000565715.1:c.217C>T | ENSP00000455693.1:p.Leu73Phe | |
| NM_001195139.1:c.2092C>T | NP_001182068.1:p.Leu698Phe | |
| NM_015386.2:c.2155C>T | NP_056201.2:p.Leu719Phe | |
| XM_011522981.1:c.1729C>T | XP_011521283.1:p.Leu577Phe | |
| XM_011522981.3:c.1729C>T | XP_011521283.1:p.Leu577Phe | |
| XM_024450224.1:c.1174C>T | XP_024305992.1:p.Leu392Phe | |
| XR_933266.2:n.2101C>T | ||
| NM_015386.3:c.2155C>T MANE Select | NP_056201.2:p.Leu719Phe | |
| NM_001195139.2:c.2080C>T | NP_001182068.2:p.Leu694Phe | |
| NM_001365426.1:c.1729C>T | NP_001352355.1:p.Leu577Phe | |
| NR_158212.1:n.2114C>T |