MyVariant.info:
GRCh37
chr9:g.129455806C>A
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126693527C>A , CM000671.2:g.126693527C>A | GRCh38 |
| NC_000009.11:g.129455806C>A , CM000671.1:g.129455806C>A | GRCh37 |
| NC_000009.10:g.128495627C>A | NCBI36 |
| NG_017039.1:g.84085C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355497.10:c.745C>A | ENSP00000347684.5:p.Arg249= | |
| ENST00000373474.9:c.745C>A MANE Select | ENSP00000362573.3:p.Arg249= | |
| ENST00000526117.6:c.745C>A | ENSP00000436930.1:p.Arg249= | |
| ENST00000355497.9:c.745C>A | ENSP00000347684.5:p.Arg249= | |
| ENST00000373474.8:c.745C>A | ENSP00000362573.3:p.Arg249= | |
| ENST00000526117.5:c.745C>A | ENSP00000436930.1:p.Arg249= | |
| ENST00000561065.1:c.676C>A | ENSP00000453580.1:p.Arg226= | |
| NM_001174146.1:c.745C>A | NP_001167617.1:p.Arg249= | |
| NM_001174147.1:c.745C>A | NP_001167618.1:p.Arg249= | |
| NM_002316.3:c.745C>A | NP_002307.2:p.Arg249= | |
| NM_001174146.2:c.745C>A | NP_001167617.1:p.Arg249= | |
| NM_001174147.2:c.745C>A MANE Select | NP_001167618.1:p.Arg249= | |
| NM_002316.4:c.745C>A | NP_002307.2:p.Arg249= |