ClinVar Variation:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7935129C>G , CM000663.2:g.7935129C>G | GRCh38 |
| NC_000001.10:g.7995189C>G , CM000663.1:g.7995189C>G | GRCh37 |
| NC_000001.9:g.7917776C>G | NCBI36 |
| NG_052834.1:g.13037G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377507.8:c.428G>C MANE Select | ENSP00000366729.3:p.Gly143Ala | |
| ENST00000377507.7:c.428G>C | ENSP00000366729.3:p.Gly143Ala | |
| ENST00000492571.1:c.298G>C | ENSP00000464978.1:n.298G>C | |
| ENST00000615230.4:c.428G>C | ENSP00000478699.1:p.Gly143Ala | |
| NM_001561.5:c.428G>C | NP_001552.2:p.Gly143Ala | |
| XM_006710618.2:c.428G>C | XP_006710681.1:p.Gly143Ala | |
| XM_011541386.1:c.428G>C | XP_011539688.1:p.Gly143Ala | |
| XM_006710618.3:c.428G>C | XP_006710681.1:p.Gly143Ala | |
| XM_011541386.2:c.428G>C | XP_011539688.1:p.Gly143Ala | |
| NM_001561.6:c.428G>C MANE Select | NP_001552.2:p.Gly143Ala |