Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16145034T>C , CM000668.2:g.16145034T>C | GRCh38 |
| NC_000006.11:g.16145265T>C , CM000668.1:g.16145265T>C | GRCh37 |
| NC_000006.10:g.16253244T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356840.8:c.965T>C MANE Select | ENSP00000349298.3:p.Val322Ala | |
| ENST00000349606.4:c.422T>C | ENSP00000008686.5:p.Val141Ala | |
| ENST00000356840.7:c.965T>C | ENSP00000349298.3:p.Val322Ala | |
| NM_013262.3:c.965T>C | NP_037394.2:p.Val322Ala | |
| XM_005249032.2:c.800T>C | XP_005249089.1:p.Val267Ala | |
| XM_005249033.2:c.422T>C | XP_005249090.1:p.Val141Ala | |
| XM_005249033.3:c.422T>C | XP_005249090.1:p.Val141Ala | |
| XM_017010789.1:c.965T>C | XP_016866278.1:p.Val322Ala | |
| NM_013262.4:c.965T>C MANE Select | NP_037394.2:p.Val322Ala |