Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61031461A>G , CM000664.2:g.61031461A>G | GRCh38 |
| NC_000002.11:g.61258596A>G , CM000664.1:g.61258596A>G | GRCh37 |
| NC_000002.10:g.61112100A>G | NCBI36 |
| NG_008665.1:g.18785A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002618.4:c.135A>G MANE Select | NP_002609.1:p.Gln45= |
| ENST00000295030.6:c.135A>G MANE Select | ENSP00000295030.4:p.Gln45= |
| NM_002618.3:c.135A>G | NP_002609.1:p.Gln45= |
| ENST00000295030.5:c.135A>G | ENSP00000295030.4:p.Gln45= |
| ENST00000472678.1:n.198A>G | |
| XM_011532904.1:c.18A>G | XP_011531206.1:p.Gln6= |