gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004584 (SAS)
Exomes Max Group AF
0.0000354 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153960046A>G , CM000685.2:g.153960046A>G | GRCh38 |
| NC_000023.10:g.153225497A>G , CM000685.1:g.153225497A>G | GRCh37 |
| NC_000023.9:g.152878691A>G | NCBI36 |
| NG_012513.1:g.16323T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310441.12:c.1200T>C MANE Select | ENSP00000309555.7:p.Tyr400= | |
| ENST00000310441.11:c.1200T>C | ENSP00000309555.7:p.Tyr400= | |
| ENST00000369984.4:c.1200T>C | ENSP00000359001.4:p.Tyr400= | |
| ENST00000461098.1:n.342T>C | ||
| NM_005334.2:c.1200T>C | NP_005325.2:p.Tyr400= | |
| XM_006724815.1:c.1200T>C | XP_006724878.1:p.Tyr400= | |
| XM_006724816.1:c.1200T>C | XP_006724879.1:p.Tyr400= | |
| XM_011531144.1:c.1200T>C | XP_011529446.1:p.Tyr400= | |
| XM_011531145.1:c.1200T>C | XP_011529447.1:p.Tyr400= | |
| XM_011531146.1:c.1200T>C | XP_011529448.1:p.Tyr400= | |
| XM_011531147.1:c.1200T>C | XP_011529449.1:p.Tyr400= | |
| XM_011531148.1:c.1200T>C | XP_011529450.1:p.Tyr400= | |
| XM_011531149.1:c.1200T>C | XP_011529451.1:p.Tyr400= | |
| XM_011531150.1:c.291T>C | XP_011529452.1:p.Tyr97= | |
| XM_006724815.3:c.1200T>C | XP_006724878.1:p.Tyr400= | |
| XM_006724816.3:c.1200T>C | XP_006724879.1:p.Tyr400= | |
| XM_011531147.3:c.1200T>C | XP_011529449.1:p.Tyr400= | |
| XM_011531148.3:c.1200T>C | XP_011529450.1:p.Tyr400= | |
| XM_017029471.2:c.1200T>C | XP_016884960.1:p.Tyr400= | |
| XM_017029472.1:c.291T>C | XP_016884961.1:p.Tyr97= | |
| NM_005334.3:c.1200T>C MANE Select | NP_005325.2:p.Tyr400= |