gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00201139 (AFR)
Genomes Max Group AF
0.00162844 (AFR)
Exomes Max Group AF
0.0022396 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50628111G>A , CM000676.2:g.50628111G>A | GRCh38 |
| NC_000014.8:g.51094829G>A , CM000676.1:g.51094829G>A | GRCh37 |
| NC_000014.7:g.50164579G>A | NCBI36 |
| NG_009028.1:g.100030G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.1200G>A | ENSP00000450989.2:p.Lys400= | |
| ENST00000556478.3:c.1200G>A | ENSP00000501428.2:p.Lys400= | |
| ENST00000682037.1:c.1200G>A | ENSP00000508289.1:p.Lys400= | |
| ENST00000682219.1:n.2538G>A | ||
| ENST00000683037.1:n.1121G>A | ||
| ENST00000683330.1:n.1534G>A | ||
| ENST00000358385.12:c.1200G>A MANE Select | ENSP00000351155.7:p.Lys400= | |
| ENST00000674288.1:c.*2492G>A | ENSP00000501522.1:n.*2492G>A | |
| ENST00000358385.10:c.1200G>A | ENSP00000351155.6:p.Lys400= | |
| ENST00000441560.6:c.1200G>A | ENSP00000413675.2:p.Lys400= | |
| ENST00000555266.1:c.343G>A | ENSP00000450897.1:n.343G>A | |
| NM_001127713.1:c.1200G>A | NP_001121185.1:p.Lys400= | |
| NM_015915.4:c.1200G>A | NP_056999.2:p.Lys400= | |
| NM_181598.3:c.1200G>A | NP_853629.2:p.Lys400= | |
| NM_015915.5:c.1200G>A MANE Select | NP_056999.2:p.Lys400= | |
| NM_181598.4:c.1200G>A | NP_853629.2:p.Lys400= |