gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00038934 (NFE)
Genomes Max Group AF
0.00030404 (NFE)
Exomes Max Group AF
0.00038891 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21842330G>A , CM000663.2:g.21842330G>A | GRCh38 |
| NC_000001.10:g.22168823G>A , CM000663.1:g.22168823G>A | GRCh37 |
| NC_000001.9:g.22041410G>A | NCBI36 |
| NG_016740.1:g.99928C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.8961C>T MANE Select | ENSP00000363827.3:p.Gly2987= | |
| ENST00000374695.7:c.8961C>T | ENSP00000363827.3:p.Gly2987= | |
| NM_001291860.1:c.8964C>T | NP_001278789.1:p.Gly2988= | |
| NM_005529.6:c.8961C>T | NP_005520.4:p.Gly2987= | |
| XM_006710594.2:c.9507C>T | XP_006710657.1:p.Gly3169= | |
| XM_006710595.2:c.9459C>T | XP_006710658.1:p.Gly3153= | |
| XM_006710596.2:c.9438C>T | XP_006710659.1:p.Gly3146= | |
| XM_006710597.2:c.8961C>T | XP_006710660.1:p.Gly2987= | |
| XM_011541317.1:c.9510C>T | XP_011539619.1:p.Gly3170= | |
| XM_011541318.1:c.9510C>T | XP_011539620.1:p.Gly3170= | |
| XM_011541319.1:c.9510C>T | XP_011539621.1:p.Gly3170= | |
| XM_011541320.1:c.9231C>T | XP_011539622.1:p.Gly3077= | |
| XM_011541321.1:c.9015C>T | XP_011539623.1:p.Gly3005= | |
| XM_011541318.2:c.9510C>T | XP_011539620.1:p.Gly3170= | |
| XM_017001120.1:c.9156C>T | XP_016856609.1:p.Gly3052= | |
| XM_017001121.1:c.9105C>T | XP_016856610.1:p.Gly3035= | |
| XM_017001122.1:c.9102C>T | XP_016856611.1:p.Gly3034= | |
| NM_005529.7:c.8961C>T MANE Select | NP_005520.4:p.Gly2987= | |
| NM_001291860.2:c.8964C>T | NP_001278789.1:p.Gly2988= |