Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451541T>C , CM000674.2:g.52451541T>C | GRCh38 |
| NC_000012.11:g.52845325T>C , CM000674.1:g.52845325T>C | GRCh37 |
| NC_000012.10:g.51131592T>C | NCBI36 |
| NG_008299.1:g.5586A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.538A>G MANE Select | ENSP00000252252.3:p.Lys180Glu | |
| ENST00000252252.3:c.538A>G | ENSP00000252252.3:p.Lys180Glu | |
| NM_005555.3:c.538A>G | NP_005546.2:p.Lys180Glu | |
| NM_005555.4:c.538A>G MANE Select | NP_005546.2:p.Lys180Glu |