Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97853986G>C , CM000671.2:g.97853986G>C | GRCh38 |
| NC_000009.11:g.100616268G>C , CM000671.1:g.100616268G>C | GRCh37 |
| NC_000009.10:g.99656089G>C | NCBI36 |
| NG_011979.1:g.5732G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375123.5:c.72G>C MANE Select | ENSP00000364265.3:p.Glu24Asp | |
| ENST00000375123.4:c.72G>C | ENSP00000364265.3:p.Glu24Asp | |
| NM_004473.3:c.72G>C | NP_004464.2:p.Glu24Asp | |
| NM_004473.4:c.72G>C MANE Select | NP_004464.2:p.Glu24Asp |