Linked Data
ClinVar Variation Id:
2071281
dbSNP Id:
rs200205441
ExAC:
3:119120866 G / C
gnomAD v2:
3-119120866-G-C
gnomAD v3:
3-119402019-G-C
gnomAD v4:
3-119402019-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119402019G>C , CM000665.2:g.119402019G>C | GRCh38 |
| NC_000003.11:g.119120866G>C , CM000665.1:g.119120866G>C | GRCh37 |
| NC_000003.10:g.120603556G>C | NCBI36 |
| NG_007665.2:g.112647G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.1267G>C MANE Select | ENSP00000264245.4:p.Ala423Pro | |
| ENST00000264245.8:c.1267G>C | ENSP00000264245.4:p.Ala423Pro | |
| NM_020754.3:c.1267G>C | NP_065805.2:p.Ala423Pro | |
| XM_005247671.3:c.1174G>C | XP_005247728.1:p.Ala392Pro | |
| XM_006713714.2:c.1207G>C | XP_006713777.1:p.Ala403Pro | |
| XM_006713714.3:c.1207G>C | XP_006713777.1:p.Ala403Pro | |
| XM_017006955.1:c.775G>C | XP_016862444.1:p.Ala259Pro | |
| NM_020754.4:c.1267G>C MANE Select | NP_065805.2:p.Ala423Pro |