Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52792256C>G , CM000674.2:g.52792256C>G | GRCh38 |
| NC_000012.11:g.53186040C>G , CM000674.1:g.53186040C>G | GRCh37 |
| NC_000012.10:g.51472307C>G | NCBI36 |
| NG_008350.1:g.8853G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417996.2:c.1171G>C MANE Select | ENSP00000413479.2:p.Ala391Pro | |
| NM_057088.2:c.1171G>C | NP_476429.2:p.Ala391Pro | |
| XM_011538324.1:c.811G>C | XP_011536626.1:p.Ala271Pro | |
| XM_024448975.1:c.1435G>C | XP_024304743.1:p.Ala479Pro | |
| NM_057088.3:c.1171G>C MANE Select | NP_476429.2:p.Ala391Pro |