Linked Data
ClinVar Variation Id:
828861
ClinVar RCV Id:
RCV001028772
dbSNP Id:
rs1333908490
gnomAD v3:
22-42128971-G-A
gnomAD v4:
22-42128971-G-A
MyVariant Identifiers:
chr22:g.42128971G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128971G>A , CM000684.2:g.42128971G>A | GRCh38 |
| NC_000022.10:g.42524973G>A , CM000684.1:g.42524973G>A | GRCh37 |
| NC_000022.9:g.40854917G>A | NCBI36 |
| NG_008376.3:g.6021C>T | |
| NG_008376.4:g.6840C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.353-27C>T | ENSP00000353241.6:n.353-27C>T | |
| ENST00000645361.2:c.506-27C>T MANE Select | ENSP00000496150.1:n.506-27C>T | |
| ENST00000359033.4:c.353-27C>T | ENSP00000351927.4:n.353-27C>T | |
| ENST00000360124.9:c.173-27C>T | ENSP00000353241.5:n.173-27C>T | |
| ENST00000360608.9:c.506-27C>T | ENSP00000353820.5:n.506-27C>T | |
| ENST00000389970.7:c.440-27C>T | ENSP00000374620.4:n.440-27C>T | |
| ENST00000488442.1:n.1230-27C>T | ||
| NM_000106.5:c.506-27C>T | NP_000097.3:n.506-27C>T | |
| NM_001025161.2:c.353-27C>T | NP_001020332.2:n.353-27C>T | |
| XM_011529966.1:c.506-27C>T | XP_011528268.1:n.506-27C>T | |
| XM_011529967.1:c.506-27C>T | XP_011528269.1:n.506-27C>T | |
| XM_011529968.1:c.506-27C>T | XP_011528270.1:n.506-27C>T | |
| XM_011529969.1:c.363-28C>T | XP_011528271.1:n.363-28C>T | |
| XM_011529970.1:c.353-27C>T | XP_011528272.1:n.353-27C>T | |
| XM_011529971.1:c.363-28C>T | XP_011528273.1:n.363-28C>T | |
| XM_011529972.1:c.506-27C>T | XP_011528274.1:n.506-27C>T | |
| NM_000106.6:c.506-27C>T MANE Select | NP_000097.3:n.506-27C>T | |
| NM_001025161.3:c.353-27C>T | NP_001020332.2:n.353-27C>T |