Linked Data
ClinVar Variation Id:
829712
ClinVar RCV Id:
RCV001029642
dbSNP Id:
rs1602564450
gnomAD v4:
22-42126536-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126536T>C , CM000684.2:g.42126536T>C | GRCh38 |
| NC_000022.10:g.42522538T>C , CM000684.1:g.42522538T>C | GRCh37 |
| NC_000022.9:g.40852482T>C | NCBI36 |
| NG_008376.3:g.8456A>G | |
| NG_008376.4:g.9275A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.1330A>G | ENSP00000353241.6:n.1330A>G | |
| ENST00000645361.2:c.*38A>G MANE Select | ENSP00000496150.1:n.*38A>G | |
| ENST00000360124.9:c.1150A>G | ENSP00000353241.5:n.1150A>G | |
| ENST00000360608.9:c.*38A>G | ENSP00000353820.5:n.*38A>G | |
| ENST00000389970.7:c.*38A>G | ENSP00000374620.4:n.*38A>G | |
| ENST00000488442.1:n.2256A>G | ||
| NM_000106.5:c.*38A>G | NP_000097.3:n.*38A>G | |
| NM_001025161.2:c.*38A>G | NP_001020332.2:n.*38A>G | |
| XM_011529966.1:c.1452+80A>G | XP_011528268.1:n.1452+80A>G | |
| XM_011529967.1:c.1452+80A>G | XP_011528269.1:n.1452+80A>G | |
| XM_011529968.1:c.1452+80A>G | XP_011528270.1:n.1452+80A>G | |
| XM_011529969.1:c.1308+80A>G | XP_011528271.1:n.1308+80A>G | |
| XM_011529970.1:c.1299+80A>G | XP_011528272.1:n.1299+80A>G | |
| XM_011529971.1:c.*38A>G | XP_011528273.1:n.*38A>G | |
| NM_000106.6:c.*38A>G MANE Select | NP_000097.3:n.*38A>G | |
| NM_001025161.3:c.*38A>G | NP_001020332.2:n.*38A>G |