Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7933883T>G , CM000681.2:g.7933883T>G | GRCh38 |
| NC_000019.9:g.7998768T>G , CM000681.1:g.7998768T>G | GRCh37 |
| NC_000019.8:g.7904768T>G | NCBI36 |
| NG_051180.1:g.14941A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.664A>C MANE Select | ENSP00000270538.2:p.Lys222Gln | |
| ENST00000270538.7:c.664A>C | ENSP00000270538.2:p.Lys222Gln | |
| ENST00000595831.5:c.651A>C | ||
| ENST00000595876.5:c.*352A>C | ENSP00000471596.1:n.*352A>C | |
| ENST00000597926.1:c.568A>C | ENSP00000469389.1:p.Lys190Gln | |
| ENST00000598675.1:n.70A>C | ||
| ENST00000600748.5:n.649A>C | ||
| NM_006351.3:c.664A>C | NP_006342.2:p.Lys222Gln | |
| NM_006351.4:c.664A>C MANE Select | NP_006342.2:p.Lys222Gln |