gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007708 (NFE)
Genomes Max Group AF
0.00004844 (NFE)
Exomes Max Group AF
0.000075 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153954709C>T , CM000685.2:g.153954709C>T | GRCh38 |
| NC_000023.10:g.153220160C>T , CM000685.1:g.153220160C>T | GRCh37 |
| NC_000023.9:g.152873354C>T | NCBI36 |
| NG_012513.1:g.21660G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310441.12:c.3690G>A MANE Select | ENSP00000309555.7:p.Ala1230= | |
| ENST00000310441.11:c.3690G>A | ENSP00000309555.7:p.Ala1230= | |
| ENST00000369984.4:c.3690G>A | ENSP00000359001.4:p.Ala1230= | |
| NM_005334.2:c.3690G>A | NP_005325.2:p.Ala1230= | |
| XM_006724815.1:c.3690G>A | XP_006724878.1:p.Ala1230= | |
| XM_006724816.1:c.3690G>A | XP_006724879.1:p.Ala1230= | |
| XM_011531144.1:c.3690G>A | XP_011529446.1:p.Ala1230= | |
| XM_011531145.1:c.3690G>A | XP_011529447.1:p.Ala1230= | |
| XM_011531146.1:c.3690G>A | XP_011529448.1:p.Ala1230= | |
| XM_011531147.1:c.3690G>A | XP_011529449.1:p.Ala1230= | |
| XM_011531148.1:c.3690G>A | XP_011529450.1:p.Ala1230= | |
| XM_011531149.1:c.3492G>A | XP_011529451.1:p.Ala1164= | |
| XM_011531150.1:c.2781G>A | XP_011529452.1:p.Ala927= | |
| XM_006724815.3:c.3690G>A | XP_006724878.1:p.Ala1230= | |
| XM_006724816.3:c.3690G>A | XP_006724879.1:p.Ala1230= | |
| XM_011531147.3:c.3690G>A | XP_011529449.1:p.Ala1230= | |
| XM_011531148.3:c.3690G>A | XP_011529450.1:p.Ala1230= | |
| XM_017029471.2:c.3492G>A | XP_016884960.1:p.Ala1164= | |
| XM_017029472.1:c.2781G>A | XP_016884961.1:p.Ala927= | |
| NM_005334.3:c.3690G>A MANE Select | NP_005325.2:p.Ala1230= |