Linked Data
dbSNP Id:
rs1848082690
gnomAD v3:
11-6394241-T-C
gnomAD v4:
11-6394241-T-C
MyVariant Identifiers:
chr11:g.6415471T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394241T>C , CM000673.2:g.6394241T>C | GRCh38 |
| NC_000011.9:g.6415471T>C , CM000673.1:g.6415471T>C | GRCh37 |
| NC_000011.8:g.6372047T>C | NCBI36 |
| NG_011780.1:g.8817T>C | |
| NG_029615.1:g.30174A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1530T>C MANE Select | ENSP00000340409.4:p.Ser510= | |
| ENST00000342245.8:c.1530T>C | ENSP00000340409.4:p.Ser510= | |
| ENST00000526280.1:c.587T>C | ||
| ENST00000527275.5:c.1527T>C | ENSP00000435350.1:p.Ser509= | |
| ENST00000531303.5:c.*381T>C | ENSP00000432625.1:n.*381T>C | |
| ENST00000531336.1:n.518T>C | ||
| ENST00000533123.5:c.*257T>C | ENSP00000435950.1:n.*257T>C | |
| ENST00000534405.5:c.*361T>C | ENSP00000434353.1:n.*361T>C | |
| NM_000543.4:c.1530T>C | NP_000534.3:p.Ser510= | |
| NM_001007593.2:c.1527T>C | NP_001007594.2:p.Ser509= | |
| XM_005253075.3:c.*23T>C | XP_005253132.1:n.*23T>C | |
| XM_011520303.1:c.1398T>C | XP_011518605.1:p.Ser466= | |
| XM_011520304.1:c.*23T>C | XP_011518606.1:n.*23T>C | |
| NM_001318087.1:c.*23T>C | NP_001305016.1:n.*23T>C | |
| NM_001318088.1:c.609T>C | NP_001305017.1:p.Ser203= | |
| NM_001365135.1:c.1398T>C | NP_001352064.1:p.Ser466= | |
| NR_027400.2:n.1543T>C | ||
| NR_134502.1:n.1082T>C | ||
| XM_011520304.2:c.*23T>C | XP_011518606.1:n.*23T>C | |
| XR_001747940.2:n.1715T>C | ||
| XR_002957158.1:n.1897T>C | ||
| NM_000543.5:c.1530T>C MANE Select | NP_000534.3:p.Ser510= | |
| NM_001007593.3:c.1527T>C | NP_001007594.2:p.Ser509= | |
| NM_001318087.2:c.*23T>C | NP_001305016.1:n.*23T>C | |
| NM_001318088.2:c.609T>C | NP_001305017.1:p.Ser203= | |
| NM_001365135.2:c.1398T>C | NP_001352064.1:p.Ser466= | |
| NR_027400.3:n.1483T>C | ||
| NR_134502.2:n.1022T>C |