Linked Data
dbSNP Id:
rs1042858
ExAC:
11:4159466 G / T
gnomAD v2:
11-4159466-G-T
gnomAD v3:
11-4138236-G-T
gnomAD v4:
11-4138236-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4138236G>T , CM000673.2:g.4138236G>T | GRCh38 |
| NC_000011.9:g.4159466G>T , CM000673.1:g.4159466G>T | GRCh37 |
| NC_000011.8:g.4116042G>T | NCBI36 |
| NG_027992.2:g.48543G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300738.10:c.2232G>T MANE Select | ENSP00000300738.5:p.Ala744= | |
| ENST00000300738.9:c.2232G>T | ENSP00000300738.5:p.Ala744= | |
| ENST00000532170.5:c.*2108G>T | ENSP00000435656.1:n.*2108G>T | |
| ENST00000533349.5:c.*1940G>T | ENSP00000434069.1:n.*1940G>T | |
| ENST00000533495.5:c.*1380G>T | ENSP00000436377.1:n.*1380G>T | |
| ENST00000534285.5:c.1566G>T | ENSP00000431464.1:p.Ala522= | |
| NM_001033.3:c.2232G>T | NP_001024.1:p.Ala744= | |
| XM_011520277.1:c.1941G>T | XP_011518579.1:p.Ala647= | |
| XM_011520278.1:c.1566G>T | XP_011518580.1:p.Ala522= | |
| XM_011520279.1:c.1218G>T | XP_011518581.1:p.Ala406= | |
| NM_001033.4:c.2232G>T | NP_001024.1:p.Ala744= | |
| NM_001318064.1:c.1941G>T | NP_001304993.1:p.Ala647= | |
| NM_001318065.1:c.1218G>T | NP_001304994.1:p.Ala406= | |
| NM_001330193.1:c.1566G>T | NP_001317122.1:p.Ala522= | |
| NM_001033.5:c.2232G>T MANE Select | NP_001024.1:p.Ala744= |