Linked Data
dbSNP Id:
rs750996195
gnomAD v2:
22-42523598-C-A
gnomAD v3:
22-42127596-C-A
gnomAD v4:
22-42127596-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127596C>A , CM000684.2:g.42127596C>A | GRCh38 |
| NC_000022.10:g.42523598C>A , CM000684.1:g.42523598C>A | GRCh37 |
| NC_000022.9:g.40853542C>A | NCBI36 |
| NG_008376.3:g.7396G>T | |
| NG_008376.4:g.8215G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.822G>T | ENSP00000353241.6:n.822G>T | |
| ENST00000645361.2:c.1024G>T MANE Select | ENSP00000496150.1:p.Val342Leu | |
| ENST00000359033.4:c.871G>T | ENSP00000351927.4:p.Val291Leu | |
| ENST00000360124.9:c.642G>T | ENSP00000353241.5:n.642G>T | |
| ENST00000360608.9:c.1024G>T | ENSP00000353820.5:p.Val342Leu | |
| ENST00000389970.7:c.1015G>T | ENSP00000374620.4:p.Val339Leu | |
| ENST00000488442.1:n.1748G>T | ||
| NM_000106.5:c.1024G>T | NP_000097.3:p.Val342Leu | |
| NM_001025161.2:c.871G>T | NP_001020332.2:p.Val291Leu | |
| XM_011529966.1:c.1024G>T | XP_011528268.1:p.Val342Leu | |
| XM_011529967.1:c.1024G>T | XP_011528269.1:p.Val342Leu | |
| XM_011529968.1:c.1024G>T | XP_011528270.1:p.Val342Leu | |
| XM_011529969.1:c.880G>T | XP_011528271.1:p.Val294Leu | |
| XM_011529970.1:c.871G>T | XP_011528272.1:p.Val291Leu | |
| XM_011529971.1:c.880G>T | XP_011528273.1:p.Val294Leu | |
| XM_011529972.1:c.*9G>T | XP_011528274.1:n.*9G>T | |
| NM_000106.6:c.1024G>T MANE Select | NP_000097.3:p.Val342Leu | |
| NM_001025161.3:c.871G>T | NP_001020332.2:p.Val291Leu |