Linked Data
ClinVar Variation Id:
1439372
ClinVar RCV Id:
RCV001949206
dbSNP Id:
rs375370365
ExAC:
2:32476356 C / G
gnomAD v2:
2-32476356-C-G
gnomAD v3:
2-32251287-C-G
gnomAD v4:
2-32251287-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32251287C>G , CM000664.2:g.32251287C>G | GRCh38 |
| NC_000002.11:g.32476356C>G , CM000664.1:g.32476356C>G | GRCh37 |
| NC_000002.10:g.32329860C>G | NCBI36 |
| NG_041780.1:g.19457G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.-76+5488G>C | ENSP00000498301.2:n.-76+5488G>C | |
| ENST00000402280.6:c.577G>C MANE Select | ENSP00000385428.1:p.Ala193Pro | |
| ENST00000404025.3:c.577G>C | ENSP00000385090.3:p.Ala193Pro | |
| ENST00000652197.1:c.577G>C | ENSP00000498301.1:p.Ala193Pro | |
| ENST00000342905.10:c.262+1132G>C | ENSP00000339666.6:n.262+1132G>C | |
| ENST00000360906.9:c.577G>C | ENSP00000354159.5:p.Ala193Pro | |
| ENST00000402280.5:c.577G>C | ENSP00000385428.1:p.Ala193Pro | |
| ENST00000404025.2:c.577G>C | ENSP00000385090.2:p.Ala193Pro | |
| NM_001199138.1:c.577G>C | NP_001186067.1:p.Ala193Pro | |
| NM_001199139.1:c.577G>C | NP_001186068.1:p.Ala193Pro | |
| NM_001302504.1:c.262+1132G>C | NP_001289433.1:n.262+1132G>C | |
| NM_021209.4:c.577G>C | NP_067032.3:p.Ala193Pro | |
| XM_011533008.1:c.577G>C | XP_011531310.1:p.Ala193Pro | |
| XM_017004619.1:c.577G>C | XP_016860108.1:p.Ala193Pro | |
| XR_001738872.1:n.838G>C | ||
| NM_001199138.2:c.577G>C MANE Select | NP_001186067.1:p.Ala193Pro |