Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7933969C>G , CM000681.2:g.7933969C>G | GRCh38 |
| NC_000019.9:g.7998854C>G , CM000681.1:g.7998854C>G | GRCh37 |
| NC_000019.8:g.7904854C>G | NCBI36 |
| NG_051180.1:g.14855G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.578G>C MANE Select | ENSP00000270538.2:p.Ser193Thr | |
| ENST00000270538.7:c.578G>C | ENSP00000270538.2:p.Ser193Thr | |
| ENST00000595831.5:c.565G>C | ||
| ENST00000595876.5:c.*266G>C | ENSP00000471596.1:n.*266G>C | |
| ENST00000597926.1:c.482G>C | ENSP00000469389.1:p.Ser161Thr | |
| ENST00000600748.5:n.563G>C | ||
| NM_006351.3:c.578G>C | NP_006342.2:p.Ser193Thr | |
| NM_006351.4:c.578G>C MANE Select | NP_006342.2:p.Ser193Thr |