Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176118955G>T , CM000664.2:g.176118955G>T | GRCh38 |
| NC_000002.11:g.176983683G>T , CM000664.1:g.176983683G>T | GRCh37 |
| NC_000002.10:g.176691929G>T | NCBI36 |
| NG_008133.2:g.12192G>T , LRG_246:g.12192G>T | |
| NG_009225.1:g.1271G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.747G>T MANE Select | ENSP00000249501.4:p.Glu249Asp | |
| ENST00000249501.4:c.747G>T | ENSP00000249501.4:p.Glu249Asp | |
| ENST00000490088.2:n.571G>T | ||
| ENST00000549469.1:n.618G>T | ||
| NM_002148.3:c.747G>T , LRG_246t1:c.747G>T | NP_002139.2:p.Glu249Asp | |
| NM_002148.4:c.747G>T MANE Select | NP_002139.2:p.Glu249Asp |