Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1814527T>C , CM000666.2:g.1814527T>C | GRCh38 |
| NC_000004.11:g.1816254T>C , CM000666.1:g.1816254T>C | GRCh37 |
| NC_000004.10:g.1786052T>C | NCBI36 |
| NG_013063.1:g.46721A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.2117A>G MANE Select | ENSP00000305653.2:p.Gln706Arg | |
| ENST00000302787.2:c.2117A>G | ENSP00000305653.2:p.Gln706Arg | |
| NM_012318.2:c.2117A>G | NP_036450.1:p.Gln706Arg | |
| XM_005247970.3:c.1202A>G | XP_005248027.1:p.Gln401Arg | |
| XM_006713884.1:c.2114A>G | XP_006713947.1:p.Gln705Arg | |
| NM_012318.3:c.2117A>G MANE Select | NP_036450.1:p.Gln706Arg |