Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174724711C>A , CM000667.2:g.174724711C>A | GRCh38 |
| NC_000005.9:g.174151714C>A , CM000667.1:g.174151714C>A | GRCh37 |
| NC_000005.8:g.174084320C>A | NCBI36 |
| NG_008124.1:g.5140C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.52C>A MANE Select | ENSP00000239243.5:p.Pro18Thr | |
| ENST00000239243.6:c.52C>A | ENSP00000239243.5:p.Pro18Thr | |
| ENST00000507785.2:c.52C>A | ENSP00000427425.1:p.Pro18Thr | |
| NM_002449.4:c.52C>A | NP_002440.2:p.Pro18Thr | |
| NM_001363626.1:c.52C>A | NP_001350555.1:p.Pro18Thr | |
| NM_002449.5:c.52C>A MANE Select | NP_002440.2:p.Pro18Thr | |
| NM_001363626.2:c.52C>A | NP_001350555.1:p.Pro18Thr |