Linked Data
ClinVar Variation Id:
1285136
ClinVar RCV Id:
RCV001703402
dbSNP Id:
rs751361395
ExAC:
6:7579569 C / G
gnomAD v2:
6-7579569-C-G
gnomAD v4:
6-7579336-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7579336C>G , CM000668.2:g.7579336C>G | GRCh38 |
| NC_000006.11:g.7579569C>G , CM000668.1:g.7579569C>G | GRCh37 |
| NC_000006.10:g.7524568C>G | NCBI36 |
| NG_008803.1:g.42700C>G , LRG_423:g.42700C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.3146C>G | ENSP00000518230.1:p.Ser1049Trp | |
| ENST00000379802.8:c.3146C>G MANE Select | ENSP00000369129.3:p.Ser1049Trp | |
| ENST00000379802.7:c.3146C>G | ENSP00000369129.3:p.Ser1049Trp | |
| ENST00000418664.2:c.3146C>G | ENSP00000396591.2:p.Ser1049Trp | |
| NM_001008844.1:c.3146C>G | NP_001008844.1:p.Ser1049Trp | |
| NM_004415.2:c.3146C>G , LRG_423t1:c.3146C>G | NP_004406.2:p.Ser1049Trp | |
| XM_011514323.1:c.3146C>G | XP_011512625.1:p.Ser1049Trp | |
| NM_001008844.2:c.3146C>G | NP_001008844.1:p.Ser1049Trp | |
| NM_001319034.1:c.3146C>G | NP_001305963.1:p.Ser1049Trp | |
| NM_004415.3:c.3146C>G | NP_004406.2:p.Ser1049Trp | |
| NM_004415.4:c.3146C>G MANE Select | NP_004406.2:p.Ser1049Trp | |
| NM_001008844.3:c.3146C>G | NP_001008844.1:p.Ser1049Trp | |
| NM_001319034.2:c.3146C>G | NP_001305963.1:p.Ser1049Trp |