Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84031900T>G , CM000678.2:g.84031900T>G | GRCh38 |
| NC_000016.9:g.84065505T>G , CM000678.1:g.84065505T>G | GRCh37 |
| NC_000016.8:g.82623006T>G | NCBI36 |
| NG_034136.1:g.15258A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299709.8:c.599A>C MANE Select | ENSP00000299709.3:p.Gln200Pro | |
| ENST00000299709.7:c.599A>C | ENSP00000299709.3:p.Gln200Pro | |
| ENST00000568178.1:c.599A>C | ENSP00000457737.1:p.Gln200Pro | |
| NM_001080442.2:c.599A>C | NP_001073911.1:p.Gln200Pro | |
| XM_011522872.1:c.599A>C | XP_011521174.1:p.Gln200Pro | |
| XM_017022946.1:c.599A>C | XP_016878435.1:p.Gln200Pro | |
| NM_001080442.3:c.599A>C MANE Select | NP_001073911.1:p.Gln200Pro |