Linked Data
ClinVar Variation Id:
1168330
dbSNP Id:
rs2072132
ExAC:
22:31342376 G / C
gnomAD v2:
22-31342376-G-C
gnomAD v3:
22-30946389-G-C
gnomAD v4:
22-30946389-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30946389G>C , CM000684.2:g.30946389G>C | GRCh38 |
| NC_000022.10:g.31342376G>C , CM000684.1:g.31342376G>C | GRCh37 |
| NC_000022.9:g.29672376G>C | NCBI36 |
| NG_046752.1:g.27109C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397641.8:c.378C>G MANE Select | ENSP00000380763.2:p.Thr126= | |
| ENST00000675601.1:n.220C>G | ||
| ENST00000215862.8:c.192C>G | ENSP00000215862.4:p.Thr64= | |
| ENST00000397641.7:c.378C>G | ENSP00000380763.2:p.Thr126= | |
| ENST00000476152.2:n.500C>G | ||
| NM_001303256.1:c.378C>G | NP_001290185.1:p.Thr126= | |
| NM_001303257.1:c.378C>G | NP_001290186.1:p.Thr126= | |
| NM_014941.2:c.192C>G | NP_055756.1:p.Thr64= | |
| XM_011530003.1:c.402C>G | XP_011528305.1:p.Thr134= | |
| XM_011530004.1:c.393C>G | XP_011528306.1:p.Thr131= | |
| XM_011530005.1:c.402C>G | XP_011528307.1:p.Thr134= | |
| XM_011530006.1:c.243C>G | XP_011528308.1:p.Thr81= | |
| NM_001303256.2:c.378C>G | NP_001290185.1:p.Thr126= | |
| NM_001303257.2:c.378C>G | NP_001290186.1:p.Thr126= | |
| NM_014941.3:c.192C>G | NP_055756.1:p.Thr64= | |
| XM_011530004.2:c.393C>G | XP_011528306.1:p.Thr131= | |
| XM_017028667.2:c.393C>G | XP_016884156.1:p.Thr131= | |
| NM_001303256.3:c.378C>G MANE Select | NP_001290185.1:p.Thr126= |