Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52792267G>C , CM000674.2:g.52792267G>C | GRCh38 |
| NC_000012.11:g.53186051G>C , CM000674.1:g.53186051G>C | GRCh37 |
| NC_000012.10:g.51472318G>C | NCBI36 |
| NG_008350.1:g.8842C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417996.2:c.1160C>G MANE Select | ENSP00000413479.2:p.Ala387Gly | |
| NM_057088.2:c.1160C>G | NP_476429.2:p.Ala387Gly | |
| XM_011538324.1:c.800C>G | XP_011536626.1:p.Ala267Gly | |
| XM_024448975.1:c.1424C>G | XP_024304743.1:p.Ala475Gly | |
| NM_057088.3:c.1160C>G MANE Select | NP_476429.2:p.Ala387Gly |