gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033269 (MID)
Genomes Max Group AF
0.0002652 (AFR)
Exomes Max Group AF
0.00035023 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49635790C>G , CM000681.2:g.49635790C>G | GRCh38 |
| NC_000019.9:g.50139047C>G , CM000681.1:g.50139047C>G | GRCh37 |
| NC_000019.8:g.54830859C>G | NCBI36 |
| NG_042222.1:g.9354G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246792.4:c.516G>C MANE Select | ENSP00000246792.2:p.Ser172= | |
| ENST00000246792.3:c.516G>C | ENSP00000246792.2:p.Ser172= | |
| NM_006270.3:c.516G>C | NP_006261.1:p.Ser172= | |
| NM_006270.4:c.516G>C | NP_006261.1:p.Ser172= | |
| NM_006270.5:c.516G>C MANE Select | NP_006261.1:p.Ser172= |