Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79921676T>G , CM000668.2:g.79921676T>G | GRCh38 |
| NC_000006.11:g.80631393T>G , CM000668.1:g.80631393T>G | GRCh37 |
| NC_000006.10:g.80688112T>G | NCBI36 |
| NG_009108.1:g.30923A>C | |
| NG_009108.2:g.30923A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369816.5:c.490A>C MANE Select | ENSP00000358831.4:p.Thr164Pro | |
| ENST00000369816.4:c.490A>C | ENSP00000358831.4:p.Thr164Pro | |
| NM_022726.3:c.490A>C | NP_073563.1:p.Thr164Pro | |
| NM_022726.4:c.490A>C MANE Select | NP_073563.1:p.Thr164Pro |