gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00055388 (SAS)
Exomes Max Group AF
0.00058568 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119963698G>A , CM000663.2:g.119963698G>A | GRCh38 |
| NC_000001.10:g.120506321G>A , CM000663.1:g.120506321G>A | GRCh37 |
| NC_000001.9:g.120307844G>A | NCBI36 |
| NG_008163.1:g.110956C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.1791C>T MANE Select | ENSP00000256646.2:p.Pro597= | |
| ENST00000640021.1:c.1011C>T | ENSP00000492223.1:n.1011C>T | |
| ENST00000256646.6:c.1791C>T | ENSP00000256646.2:p.Pro597= | |
| ENST00000479412.2:n.1929C>T | ||
| ENST00000579475.7:c.1674C>T | ENSP00000477065.2:p.Pro558= | |
| NM_001200001.1:c.1791C>T | NP_001186930.1:p.Pro597= | |
| NM_024408.3:c.1791C>T | NP_077719.2:p.Pro597= | |
| XM_005270901.2:c.1674C>T | XP_005270958.1:p.Pro558= | |
| XM_011541519.1:c.1779C>T | XP_011539821.1:p.Pro593= | |
| XM_011541520.1:c.1674C>T | XP_011539822.1:p.Pro558= | |
| NM_024408.4:c.1791C>T MANE Select | NP_077719.2:p.Pro597= | |
| NM_001200001.2:c.1791C>T | NP_001186930.1:p.Pro597= |