Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690471G>C , CM000685.2:g.153690471G>C | GRCh38 |
| NC_000023.10:g.152955926G>C , CM000685.1:g.152955926G>C | GRCh37 |
| NC_000023.9:g.152609120G>C | NCBI36 |
| NG_012016.1:g.7175G>C | |
| NG_012016.2:g.7175G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.359G>C MANE Select | ENSP00000253122.5:p.Ser120Thr | |
| ENST00000675713.1:n.113G>C | ||
| ENST00000253122.9:c.359G>C | ENSP00000253122.5:p.Ser120Thr | |
| ENST00000430077.6:c.14G>C | ENSP00000403041.2:p.Ser5Thr | |
| ENST00000476466.1:n.211G>C | ||
| NM_001142805.1:c.359G>C | NP_001136277.1:p.Ser120Thr | |
| NM_001142806.1:c.14G>C | NP_001136278.1:p.Ser5Thr | |
| NM_005629.3:c.359G>C | NP_005620.1:p.Ser120Thr | |
| NM_005629.4:c.359G>C MANE Select | NP_005620.1:p.Ser120Thr | |
| NM_001142805.2:c.359G>C | NP_001136277.1:p.Ser120Thr |