Linked Data
ClinVar Variation Id:
352441
dbSNP Id:
rs75641902
gnomAD v2:
5-156193908-A-G
gnomAD v3:
5-156766897-A-G
gnomAD v4:
5-156766897-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156766897A>G , CM000667.2:g.156766897A>G | GRCh38 |
| NC_000005.9:g.156193908A>G , CM000667.1:g.156193908A>G | GRCh37 |
| NC_000005.8:g.156126486A>G | NCBI36 |
| NG_008693.2:g.901555A>G , LRG_205:g.901555A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337851.9:c.*7507A>G MANE Select | ENSP00000338343.4:n.*7507A>G | |
| ENST00000435422.7:c.*7507A>G | ENSP00000403003.2:n.*7507A>G | |
| NM_000337.5:c.*7507A>G , LRG_205t1:c.*7507A>G | NP_000328.2:n.*7507A>G | |
| NM_001128209.1:c.*7507A>G | NP_001121681.1:n.*7507A>G | |
| XM_005265966.3:c.*7507A>G | XP_005266023.1:n.*7507A>G | |
| XM_006714911.2:c.*7507A>G | XP_006714974.1:n.*7507A>G | |
| XM_011534621.1:c.*7507A>G | XP_011532923.1:n.*7507A>G | |
| NM_001128209.2:c.*7507A>G | NP_001121681.1:n.*7507A>G | |
| NM_000337.6:c.*7507A>G MANE Select | NP_000328.2:n.*7507A>G |