Linked Data
dbSNP Id:
rs1448610560
gnomAD v3:
16-70481412-G-A
gnomAD v4:
16-70481412-G-A
COSMIC:
COSM3735513
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70481412G>A , CM000678.2:g.70481412G>A | GRCh38 |
| NC_000016.9:g.70515315G>A , CM000678.1:g.70515315G>A | GRCh37 |
| NC_000016.8:g.69072816G>A | NCBI36 |
| NG_027529.1:g.47143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*2258C>T | ENSP00000461912.2:n.*2258C>T | |
| ENST00000703106.1:c.2227C>T | ENSP00000515173.1:n.2227C>T | |
| ENST00000703107.1:c.*2111C>T | ENSP00000515174.1:n.*2111C>T | |
| ENST00000703108.1:c.*630C>T | ENSP00000515175.1:n.*630C>T | |
| ENST00000703109.1:c.2215C>T | ENSP00000515176.1:p.Arg739Ter | |
| ENST00000703110.1:c.*1684C>T | ENSP00000515177.1:n.*1684C>T | |
| ENST00000703111.1:n.2465C>T | ||
| ENST00000703112.1:n.3126C>T | ||
| ENST00000703113.1:c.*1595C>T | ENSP00000515178.1:n.*1595C>T | |
| ENST00000703114.1:c.*831C>T | ENSP00000515179.1:n.*831C>T | |
| ENST00000703115.1:c.1295C>T | ENSP00000515180.1:n.1295C>T | |
| ENST00000323786.10:c.2182C>T MANE Select | ENSP00000315775.5:p.Arg728Ter | |
| ENST00000564415.6:c.*1962C>T | ENSP00000456653.2:n.*1962C>T | |
| ENST00000674443.1:c.2107C>T | ENSP00000501405.1:p.Arg703Ter | |
| ENST00000323786.9:c.2182C>T | ENSP00000315775.5:p.Arg728Ter | |
| ENST00000393612.8:c.2119C>T | ENSP00000377236.5:p.Arg707Ter | |
| ENST00000482252.5:c.2329C>T | ENSP00000432802.1:n.2329C>T | |
| ENST00000526700.5:n.1358C>T | ||
| ENST00000530314.5:n.2861C>T | ||
| ENST00000564415.5:c.*1962C>T | ENSP00000456653.1:n.*1962C>T | |
| ENST00000565715.1:c.244C>T | ENSP00000455693.1:p.Arg82Ter | |
| NM_001195139.1:c.2119C>T | NP_001182068.1:p.Arg707Ter | |
| NM_015386.2:c.2182C>T | NP_056201.2:p.Arg728Ter | |
| XM_011522981.1:c.1756C>T | XP_011521283.1:p.Arg586Ter | |
| XM_011522981.3:c.1756C>T | XP_011521283.1:p.Arg586Ter | |
| XM_024450224.1:c.1201C>T | XP_024305992.1:p.Arg401Ter | |
| XR_933266.2:n.2128C>T | ||
| NM_015386.3:c.2182C>T MANE Select | NP_056201.2:p.Arg728Ter | |
| NM_001195139.2:c.2107C>T | NP_001182068.2:p.Arg703Ter | |
| NM_001365426.1:c.1756C>T | NP_001352355.1:p.Arg586Ter | |
| NR_158212.1:n.2141C>T |