Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005915T>C , CM000676.2:g.75005915T>C | GRCh38 |
| NC_000014.8:g.75472618T>C , CM000676.1:g.75472618T>C | GRCh37 |
| NC_000014.7:g.74542371T>C | NCBI36 |
| NG_013333.1:g.8007T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.647T>C MANE Select | ENSP00000266126.5:p.Val216Ala | |
| ENST00000266126.9:c.647T>C | ENSP00000266126.5:p.Val216Ala | |
| ENST00000553401.5:c.645T>C | ENSP00000451681.1:n.645T>C | |
| ENST00000554748.2:c.11T>C | ENSP00000452582.2:p.Val4Ala | |
| ENST00000556028.5:c.616T>C | ENSP00000452311.1:p.Ser206Pro | |
| NM_014239.3:c.647T>C | NP_055054.1:p.Val216Ala | |
| NM_014239.4:c.647T>C MANE Select | NP_055054.1:p.Val216Ala |