gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00440001 (AFR)
Genomes Max Group AF
0.00385569 (AFR)
Exomes Max Group AF
0.00470578 (AFR)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7132264C>T , CM000681.2:g.7132264C>T | GRCh38 |
| NC_000019.9:g.7132275C>T , CM000681.1:g.7132275C>T | GRCh37 |
| NC_000019.8:g.7083275C>T | NCBI36 |
| NG_008852.2:g.166737G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.2736G>A MANE Select | ENSP00000303830.4:p.Arg912= | |
| ENST00000302850.9:c.2736G>A | ENSP00000303830.4:p.Arg912= | |
| ENST00000341500.9:c.2700G>A | ENSP00000342838.4:p.Arg900= | |
| NM_000208.2:c.2736G>A | NP_000199.2:p.Arg912= | |
| NM_000208.3:c.2736G>A | NP_000199.2:p.Arg912= | |
| NM_001079817.1:c.2700G>A | NP_001073285.1:p.Arg900= | |
| NM_001079817.2:c.2700G>A | NP_001073285.1:p.Arg900= | |
| XM_011527988.1:c.2814G>A | XP_011526290.1:p.Arg938= | |
| XM_011527989.1:c.2778G>A | XP_011526291.1:p.Arg926= | |
| XM_011527988.2:c.2736G>A | XP_011526290.2:p.Arg912= | |
| XM_011527989.3:c.2700G>A | XP_011526291.2:p.Arg900= | |
| NM_000208.4:c.2736G>A MANE Select | NP_000199.2:p.Arg912= | |
| NM_001079817.3:c.2700G>A | NP_001073285.1:p.Arg900= |