gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85354139 (NFE)
Genomes Max Group AF
0.84738045 (NFE)
Exomes Max Group AF
0.85360596 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.38819714A>G , CM000683.2:g.38819714A>G | GRCh38 |
| NC_000021.8:g.40191638A>G , CM000683.1:g.40191638A>G | GRCh37 |
| NC_000021.7:g.39113508A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360214.8:c.1023A>G | ENSP00000353344.3:p.Pro341= | |
| ENST00000360938.8:c.1023A>G MANE Select | ENSP00000354194.3:p.Pro341= | |
| ENST00000653642.1:c.1023A>G | ENSP00000499315.1:p.Pro341= | |
| ENST00000662305.1:c.1023A>G | ENSP00000499226.1:p.Pro341= | |
| ENST00000666778.1:c.1023A>G | ENSP00000499775.1:p.Pro341= | |
| ENST00000667466.1:c.1023A>G | ENSP00000499540.1:p.Pro341= | |
| ENST00000360214.7:c.1023A>G | ENSP00000353344.3:p.Pro341= | |
| ENST00000360938.7:c.1023A>G | ENSP00000354194.3:p.Pro341= | |
| NM_001256295.1:c.1443A>G | NP_001243224.1:p.Pro481= | |
| NM_005239.5:c.1023A>G | NP_005230.1:p.Pro341= | |
| XM_005260935.1:c.1023A>G | XP_005260992.1:p.Pro341= | |
| XM_017028290.1:c.1023A>G | XP_016883779.1:p.Pro341= | |
| NM_005239.6:c.1023A>G MANE Select | NP_005230.1:p.Pro341= | |
| NM_001256295.2:c.1443A>G | NP_001243224.1:p.Pro481= |