gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004957 (NFE)
Genomes Max Group AF
0.00006935 (NFE)
Exomes Max Group AF
0.00004535 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40396852T>C , CM000681.2:g.40396852T>C | GRCh38 |
| NC_000019.9:g.40902759T>C , CM000681.1:g.40902759T>C | GRCh37 |
| NC_000019.8:g.45594599T>C | NCBI36 |
| NG_007979.1:g.21513A>G , LRG_265:g.21513A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.1500A>G MANE Select | ENSP00000326018.6:p.Ser500= | |
| ENST00000673881.1:c.1083A>G | ENSP00000501070.1:p.Ser361= | |
| ENST00000674005.2:c.1785A>G | ENSP00000501261.1:p.Ser595= | |
| ENST00000674773.1:c.1083A>G | ENSP00000502579.1:p.Ser361= | |
| ENST00000675517.1:c.1375A>G | ||
| ENST00000676076.1:c.1361A>G | ||
| ENST00000676260.1:c.1462A>G | ||
| ENST00000676316.1:c.1387A>G | ||
| ENST00000291825.11:c.*1705A>G | ENSP00000291825.6:n.*1705A>G | |
| ENST00000324001.7:c.1500A>G | ENSP00000326018.6:p.Ser500= | |
| NM_020956.2:c.*1705A>G , LRG_265t1:c.*1705A>G | NP_066007.1:n.*1705A>G | |
| NM_181882.2:c.1500A>G , LRG_265t2:c.1500A>G | NP_870998.2:p.Ser500= | |
| XM_011527171.1:c.1500A>G | XP_011525473.1:p.Ser500= | |
| XM_011527171.2:c.1500A>G | XP_011525473.1:p.Ser500= | |
| XM_017027046.1:c.1398A>G | XP_016882535.1:p.Ser466= | |
| XM_017027047.1:c.1398A>G | XP_016882536.1:p.Ser466= | |
| NM_181882.3:c.1500A>G MANE Select | NP_870998.2:p.Ser500= |