Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014000T>C , CM000663.2:g.1014000T>C | GRCh38 |
| NC_000001.10:g.949380T>C , CM000663.1:g.949380T>C | GRCh37 |
| NC_000001.9:g.939243T>C | NCBI36 |
| NG_033033.1:g.5534T>C | |
| NG_033033.2:g.17863T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.-5T>C | ENSP00000485643.1:n.-5T>C | |
| ENST00000649529.1:c.20T>C MANE Select | ENSP00000496832.1:p.Val7Ala | |
| ENST00000379389.4:c.20T>C | ENSP00000368699.4:p.Val7Ala | |
| ENST00000624652.1:c.-5T>C | ENSP00000485313.1:n.-5T>C | |
| ENST00000624697.3:c.-5T>C | ENSP00000485643.1:n.-5T>C | |
| NM_005101.3:c.20T>C | NP_005092.1:p.Val7Ala | |
| NM_005101.4:c.20T>C MANE Select | NP_005092.1:p.Val7Ala |