ClinVar Variation:
COSMIC:
COSM3999875
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35855399 (AMR)
Genomes Max Group AF
0.35063444 (NFE)
Exomes Max Group AF
0.36015178 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55485623G>C , CM000678.2:g.55485623G>C | GRCh38 |
| NC_000016.9:g.55519535G>C , CM000678.1:g.55519535G>C | GRCh37 |
| NC_000016.8:g.54077036G>C | NCBI36 |
| NG_008989.1:g.11455G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219070.9:c.678G>C MANE Select | ENSP00000219070.4:p.Gly226= | |
| ENST00000219070.8:c.678G>C | ENSP00000219070.4:p.Gly226= | |
| ENST00000437642.6:c.528G>C | ENSP00000394237.2:p.Gly176= | |
| ENST00000543485.5:c.450G>C | ENSP00000444143.1:p.Gly150= | |
| ENST00000564864.5:c.450G>C | ENSP00000456096.1:p.Gly150= | |
| ENST00000570308.5:c.450G>C | ENSP00000461421.1:p.Gly150= | |
| NM_001127891.2:c.528G>C | NP_001121363.1:p.Gly176= | |
| NM_001302508.1:c.450G>C | NP_001289437.1:p.Gly150= | |
| NM_001302509.1:c.450G>C | NP_001289438.1:p.Gly150= | |
| NM_001302510.1:c.450G>C | NP_001289439.1:p.Gly150= | |
| NM_004530.5:c.678G>C | NP_004521.1:p.Gly226= | |
| NM_004530.6:c.678G>C MANE Select | NP_004521.1:p.Gly226= | |
| NM_001127891.3:c.528G>C | NP_001121363.1:p.Gly176= | |
| NM_001302509.2:c.450G>C | NP_001289438.1:p.Gly150= | |
| NM_001302510.2:c.450G>C | NP_001289439.1:p.Gly150= |