Linked Data
ClinVar Variation Id:
42094
dbSNP Id:
rs200796606
ExAC:
1:241665852 T / G
gnomAD v2:
1-241665852-T-G
gnomAD v3:
1-241502552-T-G
gnomAD v4:
1-241502552-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241502552T>G , CM000663.2:g.241502552T>G | GRCh38 |
| NC_000001.10:g.241665852T>G , CM000663.1:g.241665852T>G | GRCh37 |
| NC_000001.9:g.239732475T>G | NCBI36 |
| NG_012338.1:g.22203A>C , LRG_504:g.22203A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000493477.2:n.1630A>C | ||
| ENST00000682162.1:c.1156A>C | ENSP00000508203.1:n.1156A>C | |
| ENST00000682567.1:n.2675A>C | ||
| ENST00000683521.1:c.1127A>C | ENSP00000506864.1:p.Gln376Pro | |
| ENST00000684161.1:n.2342A>C | ||
| ENST00000684483.1:c.*523A>C | ENSP00000507894.1:n.*523A>C | |
| ENST00000366560.4:c.1127A>C MANE Select | ENSP00000355518.4:p.Gln376Pro | |
| ENST00000366560.3:c.1127A>C | ENSP00000355518.3:p.Gln376Pro | |
| NM_000143.3:c.1127A>C , LRG_504t1:c.1127A>C | NP_000134.2:p.Gln376Pro | |
| XM_011544132.1:c.899A>C | XP_011542434.1:p.Gln300Pro | |
| XM_011544132.2:c.899A>C | XP_011542434.1:p.Gln300Pro | |
| NM_000143.4:c.1127A>C MANE Select | NP_000134.2:p.Gln376Pro |