Linked Data
ClinVar Variation Id:
1482990
ClinVar RCV Id:
RCV002025320
dbSNP Id:
rs2150120727
gnomAD v4:
6-73644423-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73644423A>G , CM000668.2:g.73644423A>G | GRCh38 |
| NC_000006.11:g.74354146A>G , CM000668.1:g.74354146A>G | GRCh37 |
| NC_000006.10:g.74410867A>G | NCBI36 |
| NG_008272.1:g.14592T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.275T>C MANE Select | ENSP00000348019.5:p.Val92Ala | |
| ENST00000355773.5:c.275T>C | ENSP00000348019.5:p.Val92Ala | |
| ENST00000481996.1:n.41T>C | ||
| NM_012434.4:c.275T>C | NP_036566.1:p.Val92Ala | |
| XM_005248710.2:c.224T>C | XP_005248767.1:p.Val75Ala | |
| XM_005248711.1:c.77T>C | XP_005248768.1:p.Val26Ala | |
| XM_011535750.1:c.275T>C | XP_011534052.1:p.Val92Ala | |
| XM_011535751.1:c.275T>C | XP_011534053.1:p.Val92Ala | |
| NM_012434.5:c.275T>C MANE Select | NP_036566.1:p.Val92Ala | |
| NM_001382629.1:c.61-2499T>C | NP_001369558.1:n.61-2499T>C | |
| NM_001382630.1:c.275T>C | NP_001369559.1:p.Val92Ala | |
| NM_001382631.1:c.296T>C | NP_001369560.1:p.Val99Ala | |
| NM_001382632.1:c.275T>C | NP_001369561.1:p.Val92Ala | |
| NM_001382633.1:c.275T>C | NP_001369562.1:p.Val92Ala | |
| NM_001382634.1:c.275T>C | NP_001369563.1:p.Val92Ala | |
| NM_001382635.1:c.275T>C | NP_001369564.1:p.Val92Ala | |
| NM_001382636.1:c.61-2499T>C | NP_001369565.1:n.61-2499T>C |