gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46048587 (MID)
Genomes Max Group AF
0.45448551 (NFE)
Exomes Max Group AF
0.45971531 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75013934T>C , CM000676.2:g.75013934T>C | GRCh38 |
| NC_000014.8:g.75480637T>C , CM000676.1:g.75480637T>C | GRCh37 |
| NC_000014.7:g.74550390T>C | NCBI36 |
| NG_008649.1:g.42599A>G , LRG_217:g.42599A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355774.7:c.*3148A>G MANE Select | ENSP00000348020.2:n.*3148A>G | |
| ENST00000355774.6:c.*3148A>G | ENSP00000348020.2:n.*3148A>G | |
| ENST00000380968.6:c.*3148A>G | ENSP00000370355.3:n.*3148A>G | |
| NM_001040108.1:c.*3148A>G , LRG_217t1:c.*3148A>G | NP_001035197.1:n.*3148A>G | |
| NM_014381.2:c.*3148A>G | NP_055196.2:n.*3148A>G | |
| XR_245681.2:n.6581A>G | ||
| XM_005267532.5:c.*3148A>G | XP_005267589.1:n.*3148A>G | |
| XM_005267533.5:c.*3148A>G | XP_005267590.1:n.*3148A>G | |
| XM_011536646.3:c.*3148A>G | XP_011534948.1:n.*3148A>G | |
| XM_024449538.1:c.*3148A>G | XP_024305306.1:n.*3148A>G | |
| XM_024449539.1:c.*3148A>G | XP_024305307.1:n.*3148A>G | |
| XR_001750229.2:n.6436A>G | ||
| XR_245681.4:n.6528A>G | ||
| NM_001040108.2:c.*3148A>G MANE Select | NP_001035197.1:n.*3148A>G | |
| NM_014381.3:c.*3148A>G | NP_055196.2:n.*3148A>G |