Linked Data
dbSNP Id:
rs1332580859
gnomAD v2:
22-42524907-A-G
gnomAD v3:
22-42128905-A-G
gnomAD v4:
22-42128905-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128905A>G , CM000684.2:g.42128905A>G | GRCh38 |
| NC_000022.10:g.42524907A>G , CM000684.1:g.42524907A>G | GRCh37 |
| NC_000022.9:g.40854851A>G | NCBI36 |
| NG_008376.3:g.6087T>C | |
| NG_008376.4:g.6906T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.392T>C | ENSP00000353241.6:p.Val131Ala | |
| ENST00000645361.2:c.545T>C MANE Select | ENSP00000496150.1:p.Val182Ala | |
| ENST00000359033.4:c.392T>C | ENSP00000351927.4:p.Val131Ala | |
| ENST00000360124.9:c.212T>C | ENSP00000353241.5:p.Val71Ala | |
| ENST00000360608.9:c.545T>C | ENSP00000353820.5:p.Val182Ala | |
| ENST00000389970.7:c.479T>C | ENSP00000374620.4:p.Val160Ala | |
| ENST00000488442.1:n.1269T>C | ||
| NM_000106.5:c.545T>C | NP_000097.3:p.Val182Ala | |
| NM_001025161.2:c.392T>C | NP_001020332.2:p.Val131Ala | |
| XM_011529966.1:c.545T>C | XP_011528268.1:p.Val182Ala | |
| XM_011529967.1:c.545T>C | XP_011528269.1:p.Val182Ala | |
| XM_011529968.1:c.545T>C | XP_011528270.1:p.Val182Ala | |
| XM_011529969.1:c.401T>C | XP_011528271.1:p.Val134Ala | |
| XM_011529970.1:c.392T>C | XP_011528272.1:p.Val131Ala | |
| XM_011529971.1:c.401T>C | XP_011528273.1:p.Val134Ala | |
| XM_011529972.1:c.545T>C | XP_011528274.1:p.Val182Ala | |
| NM_000106.6:c.545T>C MANE Select | NP_000097.3:p.Val182Ala | |
| NM_001025161.3:c.392T>C | NP_001020332.2:p.Val131Ala |