Linked Data
ClinVar Variation Id:
389857
dbSNP Id:
rs200367524
ExAC:
8:134251119 G / A
gnomAD v2:
8-134251119-G-A
gnomAD v3:
8-133238876-G-A
gnomAD v4:
8-133238876-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133238876G>A , CM000670.2:g.133238876G>A | GRCh38 |
| NC_000008.10:g.134251119G>A , CM000670.1:g.134251119G>A | GRCh37 |
| NC_000008.9:g.134320301G>A | NCBI36 |
| NG_007943.1:g.63380C>T , LRG_258:g.63380C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.*2C>T MANE Select | ENSP00000319977.8:n.*2C>T | |
| ENST00000323851.11:c.*2C>T | ENSP00000319977.7:n.*2C>T | |
| ENST00000414097.6:c.*2C>T | ENSP00000404854.2:n.*2C>T | |
| ENST00000517599.5:c.*793C>T | ENSP00000429172.1:n.*793C>T | |
| ENST00000518066.5:c.*2C>T | ENSP00000431057.1:n.*2C>T | |
| ENST00000518176.5:c.*2C>T | ENSP00000429007.1:n.*2C>T | |
| ENST00000519278.5:n.2283C>T | ||
| ENST00000521026.5:n.445C>T | ||
| ENST00000521414.5:n.649C>T | ||
| ENST00000521438.1:n.2456+196C>T | ||
| ENST00000522476.5:c.*2C>T | ENSP00000427894.1:n.*2C>T | |
| ENST00000537882.2:c.*2C>T | ENSP00000437443.1:n.*2C>T | |
| NM_001135242.1:c.*2C>T | NP_001128714.1:n.*2C>T | |
| NM_001258432.1:c.*2C>T | NP_001245361.1:n.*2C>T | |
| NM_001258433.1:c.*2C>T | NP_001245362.1:n.*2C>T | |
| NM_006096.3:c.*2C>T , LRG_258t1:c.*2C>T | NP_006087.2:n.*2C>T | |
| XM_011516791.1:c.*2C>T | XP_011515093.1:n.*2C>T | |
| XM_011516792.1:c.*2C>T | XP_011515094.1:n.*2C>T | |
| XM_011516792.2:c.*2C>T | XP_011515094.1:n.*2C>T | |
| NM_001135242.2:c.*2C>T | NP_001128714.1:n.*2C>T | |
| NM_001258432.2:c.*2C>T | NP_001245361.1:n.*2C>T | |
| NM_001258433.2:c.*2C>T | NP_001245362.1:n.*2C>T | |
| NM_001374844.1:c.*2C>T | NP_001361773.1:n.*2C>T | |
| NM_001374845.1:c.*2C>T | NP_001361774.1:n.*2C>T | |
| NM_001374846.1:c.*2C>T | NP_001361775.1:n.*2C>T | |
| NM_001374847.1:c.*2C>T | NP_001361776.1:n.*2C>T | |
| NM_006096.4:c.*2C>T MANE Select | NP_006087.2:n.*2C>T |