gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176169393G>C , CM000664.2:g.176169393G>C | GRCh38 |
| NC_000002.11:g.177034121G>C , CM000664.1:g.177034121G>C | GRCh37 |
| NC_000002.10:g.176742367G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683222.1:c.279G>C MANE Select | ENSP00000507129.1:p.Pro93= | |
| ENST00000249440.4:c.279G>C | ENSP00000249440.2:p.Pro93= | |
| ENST00000410016.5:c.279G>C | ENSP00000386498.1:p.Pro93= | |
| ENST00000432796.2:c.279G>C | ENSP00000392615.2:p.Pro93= | |
| ENST00000468418.4:c.*688G>C | ENSP00000424734.3:n.*688G>C | |
| NM_006898.4:c.279G>C | NP_008829.3:p.Pro93= | |
| XM_005246509.2:c.279G>C | XP_005246566.1:p.Pro93= | |
| XM_005246510.3:c.279G>C | XP_005246567.1:p.Pro93= | |
| XM_005246511.2:c.279G>C | XP_005246568.1:p.Pro93= | |
| XM_005246513.3:c.279G>C | XP_005246570.1:p.Pro93= | |
| XM_006712477.2:c.279G>C | XP_006712540.1:p.Pro93= | |
| XM_011511065.1:c.279G>C | XP_011509367.1:p.Pro93= | |
| XM_011511066.1:c.279G>C | XP_011509368.1:p.Pro93= | |
| XM_005246509.4:c.279G>C | XP_005246566.1:p.Pro93= | |
| XM_005246511.4:c.279G>C | XP_005246568.1:p.Pro93= | |
| XM_005246513.5:c.279G>C | XP_005246570.1:p.Pro93= | |
| XM_011511065.3:c.279G>C | XP_011509367.1:p.Pro93= | |
| XM_011511066.3:c.279G>C | XP_011509368.1:p.Pro93= | |
| NM_006898.5:c.279G>C MANE Select | NP_008829.3:p.Pro93= |