gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33007157G>C , CM000668.2:g.33007157G>C | GRCh38 |
| NC_000006.11:g.32974934G>C , CM000668.1:g.32974934G>C | GRCh37 |
| NC_000006.10:g.33082912G>C | NCBI36 |
| NG_012007.1:g.7456C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229829.7:c.672C>G MANE Select | ENSP00000229829.3:p.Gly224= | |
| ENST00000229829.6:c.672C>G | ENSP00000229829.3:p.Gly224= | |
| ENST00000450833.3:c.*485C>G | ENSP00000403896.3:n.*485C>G | |
| ENST00000485901.1:n.478C>G | ||
| ENST00000490305.5:n.90C>G | ||
| NM_002119.3:c.672C>G | NP_002110.1:p.Gly224= | |
| XM_005249047.3:c.629C>G | XP_005249104.1:p.Ala210Gly | |
| XM_006715076.2:c.582C>G | XP_006715139.1:p.Gly194= | |
| XM_011514558.1:c.390C>G | XP_011512860.1:p.Gly130= | |
| NM_002119.4:c.672C>G MANE Select | NP_002110.1:p.Gly224= |