ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022591 (AFR)
Genomes Max Group AF
0.00022177 (AFR)
Exomes Max Group AF
0.00014784 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21828877C>T , CM000663.2:g.21828877C>T | GRCh38 |
| NC_000001.10:g.22155370C>T , CM000663.1:g.22155370C>T | GRCh37 |
| NC_000001.9:g.22027957C>T | NCBI36 |
| NG_016740.1:g.113381G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.12195G>A MANE Select | ENSP00000363827.3:p.Pro4065= | |
| ENST00000374695.7:c.12195G>A | ENSP00000363827.3:p.Pro4065= | |
| ENST00000486901.1:n.1534G>A | ||
| NM_001291860.1:c.12198G>A | NP_001278789.1:p.Pro4066= | |
| NM_005529.6:c.12195G>A | NP_005520.4:p.Pro4065= | |
| XM_006710594.2:c.12759G>A | XP_006710657.1:p.Pro4253= | |
| XM_006710595.2:c.12711G>A | XP_006710658.1:p.Pro4237= | |
| XM_006710596.2:c.12690G>A | XP_006710659.1:p.Pro4230= | |
| XM_006710597.2:c.12213G>A | XP_006710660.1:p.Pro4071= | |
| XM_011541317.1:c.12762G>A | XP_011539619.1:p.Pro4254= | |
| XM_011541318.1:c.12744G>A | XP_011539620.1:p.Pro4248= | |
| XM_011541319.1:c.12762G>A | XP_011539621.1:p.Pro4254= | |
| XM_011541320.1:c.12483G>A | XP_011539622.1:p.Pro4161= | |
| XM_011541321.1:c.12267G>A | XP_011539623.1:p.Pro4089= | |
| XM_011541318.2:c.12744G>A | XP_011539620.1:p.Pro4248= | |
| XM_017001120.1:c.12390G>A | XP_016856609.1:p.Pro4130= | |
| XM_017001121.1:c.12339G>A | XP_016856610.1:p.Pro4113= | |
| XM_017001122.1:c.12336G>A | XP_016856611.1:p.Pro4112= | |
| NM_005529.7:c.12195G>A MANE Select | NP_005520.4:p.Pro4065= | |
| NM_001291860.2:c.12198G>A | NP_001278789.1:p.Pro4066= |