gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00961835 (AFR)
Genomes Max Group AF
0.00824248 (AFR)
Exomes Max Group AF
0.01078156 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.84313419T>C , CM000671.2:g.84313419T>C | GRCh38 |
| NC_000009.11:g.86928334T>C , CM000671.1:g.86928334T>C | GRCh37 |
| NC_000009.10:g.86118154T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376238.5:c.96A>G MANE Select | ENSP00000365413.4:p.Ser32= | |
| ENST00000376238.4:c.96A>G | ENSP00000365413.4:p.Ser32= | |
| ENST00000495823.1:n.122A>G | ||
| NM_001199633.1:c.96A>G | NP_001186562.1:p.Ser32= | |
| NM_022127.2:c.96A>G | NP_071410.1:p.Ser32= | |
| NR_037638.2:n.242A>G | ||
| XM_011518905.1:c.96A>G | XP_011517207.1:p.Ser32= | |
| XM_011518906.1:c.96A>G | XP_011517208.1:p.Ser32= | |
| XM_011518907.1:c.-62A>G | XP_011517209.1:n.-62A>G | |
| XM_011518909.1:c.96A>G | XP_011517211.1:p.Ser32= | |
| XM_011518910.1:c.96A>G | XP_011517212.1:p.Ser32= | |
| XR_929832.1:n.223A>G | ||
| XM_011518905.2:c.96A>G | XP_011517207.1:p.Ser32= | |
| XM_011518906.2:c.96A>G | XP_011517208.1:p.Ser32= | |
| XM_011518907.2:c.-62A>G | XP_011517209.1:n.-62A>G | |
| XM_011518909.2:c.96A>G | XP_011517211.1:p.Ser32= | |
| XM_011518910.2:c.96A>G | XP_011517212.1:p.Ser32= | |
| XR_929832.2:n.228A>G | ||
| NM_001199633.2:c.96A>G MANE Select | NP_001186562.1:p.Ser32= | |
| NM_022127.3:c.96A>G | NP_071410.1:p.Ser32= | |
| NR_037638.3:n.221A>G |