Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107782801T>C , CM000669.2:g.107782801T>C | GRCh38 |
| NC_000007.13:g.107423246T>C , CM000669.1:g.107423246T>C | GRCh37 |
| NC_000007.12:g.107210482T>C | NCBI36 |
| NG_008046.1:g.25433A>G , LRG_683:g.25433A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000111.3:c.1307A>G MANE Select | NP_000102.1:p.Gln436Arg |
| ENST00000340010.10:c.1307A>G MANE Select | ENSP00000345873.5:p.Gln436Arg |
| NM_000111.2:c.1307A>G , LRG_683t1:c.1307A>G | NP_000102.1:p.Gln436Arg |
| ENST00000340010.9:c.1307A>G | ENSP00000345873.5:p.Gln436Arg |
| ENST00000379083.7:c.*1098A>G | ENSP00000368375.3:n.*1098A>G |
| XM_011515867.1:c.1307A>G | XP_011514169.1:p.Gln436Arg |