Linked Data
ClinVar Variation Id:
1054459
ClinVar RCV Id:
RCV001362962
dbSNP Id:
rs776533737
gnomAD v2:
6-7583562-G-C
gnomAD v3:
6-7583329-G-C
gnomAD v4:
6-7583329-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7583329G>C , CM000668.2:g.7583329G>C | GRCh38 |
| NC_000006.11:g.7583562G>C , CM000668.1:g.7583562G>C | GRCh37 |
| NC_000006.10:g.7528561G>C | NCBI36 |
| NG_008803.1:g.46693G>C , LRG_423:g.46693G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4738G>C | ENSP00000518230.1:p.Ala1580Pro | |
| ENST00000379802.8:c.6067G>C MANE Select | ENSP00000369129.3:p.Ala2023Pro | |
| ENST00000379802.7:c.6067G>C | ENSP00000369129.3:p.Ala2023Pro | |
| ENST00000418664.2:c.4270G>C | ENSP00000396591.2:p.Ala1424Pro | |
| NM_001008844.1:c.4270G>C | NP_001008844.1:p.Ala1424Pro | |
| NM_004415.2:c.6067G>C , LRG_423t1:c.6067G>C | NP_004406.2:p.Ala2023Pro | |
| XM_011514323.1:c.4738G>C | XP_011512625.1:p.Ala1580Pro | |
| NM_001008844.2:c.4270G>C | NP_001008844.1:p.Ala1424Pro | |
| NM_001319034.1:c.4738G>C | NP_001305963.1:p.Ala1580Pro | |
| NM_004415.3:c.6067G>C | NP_004406.2:p.Ala2023Pro | |
| NM_004415.4:c.6067G>C MANE Select | NP_004406.2:p.Ala2023Pro | |
| NM_001008844.3:c.4270G>C | NP_001008844.1:p.Ala1424Pro | |
| NM_001319034.2:c.4738G>C | NP_001305963.1:p.Ala1580Pro |