Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272639A>C , CM000676.2:g.91272639A>C | GRCh38 |
| NC_000014.8:g.91738983A>C , CM000676.1:g.91738983A>C | GRCh37 |
| NC_000014.7:g.90808736A>C | NCBI36 |
| NG_033118.1:g.150206T>G | |
| NG_033118.2:g.150206T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6073T>G MANE Select | ENSP00000374507.6:p.Tyr2025Asp | |
| ENST00000331194.8:c.1507T>G | ENSP00000330332.8:p.Tyr503Asp | |
| ENST00000389857.10:c.6073T>G | ENSP00000374507.6:p.Tyr2025Asp | |
| ENST00000556726.5:c.2301T>G | ||
| NM_001080414.3:c.6073T>G | NP_001073883.2:p.Tyr2025Asp | |
| XM_011536796.1:c.5965T>G | XP_011535098.1:p.Tyr1989Asp | |
| XM_011536796.2:c.5965T>G | XP_011535098.1:p.Tyr1989Asp | |
| XM_017021336.1:c.3154T>G | XP_016876825.1:p.Tyr1052Asp | |
| NM_001080414.4:c.6073T>G MANE Select | NP_001073883.2:p.Tyr2025Asp |