Linked Data
ClinVar Variation Id:
829685
ClinVar RCV Id:
RCV001029612
dbSNP Id:
rs1252557189
gnomAD v2:
22-42524333-A-G
gnomAD v3:
22-42128331-A-G
gnomAD v4:
22-42128331-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128331A>G , CM000684.2:g.42128331A>G | GRCh38 |
| NC_000022.10:g.42524333A>G , CM000684.1:g.42524333A>G | GRCh37 |
| NC_000022.9:g.40854277A>G | NCBI36 |
| NG_008376.3:g.6661T>C | |
| NG_008376.4:g.7480T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.533T>C | ENSP00000353241.6:p.Val178Ala | |
| ENST00000645361.2:c.686T>C MANE Select | ENSP00000496150.1:p.Val229Ala | |
| ENST00000359033.4:c.533T>C | ENSP00000351927.4:p.Val178Ala | |
| ENST00000360124.9:c.353T>C | ENSP00000353241.5:p.Val118Ala | |
| ENST00000360608.9:c.686T>C | ENSP00000353820.5:p.Val229Ala | |
| ENST00000389970.7:c.620T>C | ENSP00000374620.4:p.Val207Ala | |
| ENST00000488442.1:n.1410T>C | ||
| NM_000106.5:c.686T>C | NP_000097.3:p.Val229Ala | |
| NM_001025161.2:c.533T>C | NP_001020332.2:p.Val178Ala | |
| XM_011529966.1:c.686T>C | XP_011528268.1:p.Val229Ala | |
| XM_011529967.1:c.686T>C | XP_011528269.1:p.Val229Ala | |
| XM_011529968.1:c.686T>C | XP_011528270.1:p.Val229Ala | |
| XM_011529969.1:c.542T>C | XP_011528271.1:p.Val181Ala | |
| XM_011529970.1:c.533T>C | XP_011528272.1:p.Val178Ala | |
| XM_011529971.1:c.542T>C | XP_011528273.1:p.Val181Ala | |
| XM_011529972.1:c.686T>C | XP_011528274.1:p.Val229Ala | |
| NM_000106.6:c.686T>C MANE Select | NP_000097.3:p.Val229Ala | |
| NM_001025161.3:c.533T>C | NP_001020332.2:p.Val178Ala |