Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76948421G>T , CM000677.2:g.76948421G>T | GRCh38 |
| NC_000015.9:g.77240762G>T , CM000677.1:g.77240762G>T | GRCh37 |
| NC_000015.8:g.75027817G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394885.8:c.670G>T MANE Select | ENSP00000378349.3:p.Asp224Tyr | |
| ENST00000320963.9:c.724G>T | ENSP00000319739.5:p.Asp242Tyr | |
| ENST00000394883.3:c.367G>T | ENSP00000378347.3:p.Asp123Tyr | |
| ENST00000394885.7:c.670G>T | ENSP00000378349.3:p.Asp224Tyr | |
| ENST00000558598.1:n.3472G>T | ||
| ENST00000560833.1:n.489G>T | ||
| NM_001271837.1:c.724G>T | NP_001258766.1:p.Asp242Tyr | |
| NM_002902.2:c.670G>T | NP_002893.1:p.Asp224Tyr | |
| NM_002902.3:c.670G>T MANE Select | NP_002893.1:p.Asp224Tyr | |
| NM_001271837.2:c.724G>T | NP_001258766.1:p.Asp242Tyr |