gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005878 (NFE)
Genomes Max Group AF
0.00004765 (NFE)
Exomes Max Group AF
0.00005685 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23250635A>C , CM000675.2:g.23250635A>C | GRCh38 |
| NC_000013.10:g.23824774A>C , CM000675.1:g.23824774A>C | GRCh37 |
| NC_000013.9:g.22722774A>C | NCBI36 |
| NG_008759.1:g.74715A>C , LRG_207:g.74715A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218867.4:c.303A>C MANE Select | ENSP00000218867.3:p.Ser101= | |
| ENST00000218867.3:c.303A>C | ENSP00000218867.3:p.Ser101= | |
| NM_000231.2:c.303A>C , LRG_207t1:c.303A>C | NP_000222.1:p.Ser101= | |
| XM_005266505.2:c.303A>C | XP_005266562.1:p.Ser101= | |
| XM_006719861.2:c.357A>C | XP_006719924.1:p.Ser119= | |
| XM_006719861.3:c.357A>C | XP_006719924.1:p.Ser119= | |
| XM_024449397.1:c.303A>C | XP_024305165.1:p.Ser101= | |
| NM_000231.3:c.303A>C MANE Select | NP_000222.2:p.Ser101= | |
| NM_001378244.1:c.357A>C | NP_001365173.1:p.Ser119= | |
| NM_001378245.1:c.303A>C | NP_001365174.1:p.Ser101= | |
| NM_001378246.1:c.303A>C | NP_001365175.1:p.Ser101= |