gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0015391 (AFR)
Genomes Max Group AF
0.00125847 (AFR)
Exomes Max Group AF
0.00166971 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40395520A>G , CM000681.2:g.40395520A>G | GRCh38 |
| NC_000019.9:g.40901427A>G , CM000681.1:g.40901427A>G | GRCh37 |
| NC_000019.8:g.45593267A>G | NCBI36 |
| NG_007979.1:g.22845T>C , LRG_265:g.22845T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.2832T>C MANE Select | ENSP00000326018.6:p.Ala944= | |
| ENST00000673881.1:c.2415T>C | ENSP00000501070.1:p.Ala805= | |
| ENST00000674005.2:c.3117T>C | ENSP00000501261.1:p.Ala1039= | |
| ENST00000674773.1:c.2415T>C | ENSP00000502579.1:p.Ala805= | |
| ENST00000675517.1:c.2707T>C | ||
| ENST00000676076.1:c.2693T>C | ||
| ENST00000676260.1:c.2794T>C | ||
| ENST00000676316.1:c.2719T>C | ||
| ENST00000291825.11:c.*3037T>C | ENSP00000291825.6:n.*3037T>C | |
| ENST00000324001.7:c.2832T>C | ENSP00000326018.6:p.Ala944= | |
| NM_020956.2:c.*3037T>C , LRG_265t1:c.*3037T>C | NP_066007.1:n.*3037T>C | |
| NM_181882.2:c.2832T>C , LRG_265t2:c.2832T>C | NP_870998.2:p.Ala944= | |
| XM_011527171.1:c.2832T>C | XP_011525473.1:p.Ala944= | |
| XM_011527171.2:c.2832T>C | XP_011525473.1:p.Ala944= | |
| XM_017027046.1:c.2730T>C | XP_016882535.1:p.Ala910= | |
| XM_017027047.1:c.2730T>C | XP_016882536.1:p.Ala910= | |
| NM_181882.3:c.2832T>C MANE Select | NP_870998.2:p.Ala944= |