ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48859097T>C , CM000665.2:g.48859097T>C | GRCh38 |
| NC_000003.11:g.48896530T>C , CM000665.1:g.48896530T>C | GRCh37 |
| NC_000003.10:g.48871534T>C | NCBI36 |
| NG_008171.1:g.44800A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319017.5:c.713A>G MANE Select | ENSP00000326305.4:p.Gln238Arg | |
| ENST00000319017.4:c.713A>G | ENSP00000326305.4:p.Gln238Arg | |
| ENST00000430379.5:c.494A>G | ENSP00000388986.1:p.Gln165Arg | |
| ENST00000440964.1:c.*543A>G | ENSP00000388563.1:n.*543A>G | |
| NM_000387.5:c.713A>G | NP_000378.1:p.Gln238Arg | |
| XM_006713327.1:c.536-1325A>G | XP_006713390.1:n.536-1325A>G | |
| NM_000387.6:c.713A>G MANE Select | NP_000378.1:p.Gln238Arg |