Linked Data
dbSNP Id:
rs1354613726
gnomAD v2:
16-70515354-G-A
gnomAD v3:
16-70481451-G-A
gnomAD v4:
16-70481451-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70481451G>A , CM000678.2:g.70481451G>A | GRCh38 |
| NC_000016.9:g.70515354G>A , CM000678.1:g.70515354G>A | GRCh37 |
| NC_000016.8:g.69072855G>A | NCBI36 |
| NG_027529.1:g.47104C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*2219C>T | ENSP00000461912.2:n.*2219C>T | |
| ENST00000703106.1:c.2188C>T | ENSP00000515173.1:n.2188C>T | |
| ENST00000703107.1:c.*2072C>T | ENSP00000515174.1:n.*2072C>T | |
| ENST00000703108.1:c.*591C>T | ENSP00000515175.1:n.*591C>T | |
| ENST00000703109.1:c.2176C>T | ENSP00000515176.1:p.Leu726Phe | |
| ENST00000703110.1:c.*1645C>T | ENSP00000515177.1:n.*1645C>T | |
| ENST00000703111.1:n.2426C>T | ||
| ENST00000703112.1:n.3087C>T | ||
| ENST00000703113.1:c.*1556C>T | ENSP00000515178.1:n.*1556C>T | |
| ENST00000703114.1:c.*792C>T | ENSP00000515179.1:n.*792C>T | |
| ENST00000703115.1:c.1256C>T | ENSP00000515180.1:n.1256C>T | |
| ENST00000323786.10:c.2143C>T MANE Select | ENSP00000315775.5:p.Leu715Phe | |
| ENST00000564415.6:c.*1923C>T | ENSP00000456653.2:n.*1923C>T | |
| ENST00000674443.1:c.2068C>T | ENSP00000501405.1:p.Leu690Phe | |
| ENST00000323786.9:c.2143C>T | ENSP00000315775.5:p.Leu715Phe | |
| ENST00000393612.8:c.2080C>T | ENSP00000377236.5:p.Leu694Phe | |
| ENST00000482252.5:c.2290C>T | ENSP00000432802.1:n.2290C>T | |
| ENST00000526700.5:n.1319C>T | ||
| ENST00000530314.5:n.2822C>T | ||
| ENST00000564415.5:c.*1923C>T | ENSP00000456653.1:n.*1923C>T | |
| ENST00000565715.1:c.205C>T | ENSP00000455693.1:p.Leu69Phe | |
| NM_001195139.1:c.2080C>T | NP_001182068.1:p.Leu694Phe | |
| NM_015386.2:c.2143C>T | NP_056201.2:p.Leu715Phe | |
| XM_011522981.1:c.1717C>T | XP_011521283.1:p.Leu573Phe | |
| XM_011522981.3:c.1717C>T | XP_011521283.1:p.Leu573Phe | |
| XM_024450224.1:c.1162C>T | XP_024305992.1:p.Leu388Phe | |
| XR_933266.2:n.2089C>T | ||
| NM_015386.3:c.2143C>T MANE Select | NP_056201.2:p.Leu715Phe | |
| NM_001195139.2:c.2068C>T | NP_001182068.2:p.Leu690Phe | |
| NM_001365426.1:c.1717C>T | NP_001352355.1:p.Leu573Phe | |
| NR_158212.1:n.2102C>T |