Linked Data
ClinVar Variation Id:
1503852
ClinVar RCV Id:
RCV002045533
dbSNP Id:
rs776360120
gnomAD v3:
3-119414216-G-C
gnomAD v4:
3-119414216-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414216G>C , CM000665.2:g.119414216G>C | GRCh38 |
| NC_000003.11:g.119133063G>C , CM000665.1:g.119133063G>C | GRCh37 |
| NC_000003.10:g.120615753G>C | NCBI36 |
| NG_007665.2:g.124844G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2287G>C MANE Select | ENSP00000264245.4:p.Ala763Pro | |
| ENST00000264245.8:c.2287G>C | ENSP00000264245.4:p.Ala763Pro | |
| NM_020754.3:c.2287G>C | NP_065805.2:p.Ala763Pro | |
| XM_005247671.3:c.2194G>C | XP_005247728.1:p.Ala732Pro | |
| XM_006713714.2:c.2227G>C | XP_006713777.1:p.Ala743Pro | |
| XM_006713714.3:c.2227G>C | XP_006713777.1:p.Ala743Pro | |
| XM_017006955.1:c.1795G>C | XP_016862444.1:p.Ala599Pro | |
| NM_020754.4:c.2287G>C MANE Select | NP_065805.2:p.Ala763Pro |