gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0102385 (NFE)
Genomes Max Group AF
0.0082085 (NFE)
Exomes Max Group AF
0.01033362 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136430288C>G , CM000671.2:g.136430288C>G | GRCh38 |
| NC_000009.11:g.139324740C>G , CM000671.1:g.139324740C>G | GRCh37 |
| NC_000009.10:g.138444561C>G | NCBI36 |
| NG_016126.1:g.14517G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.1791G>C MANE Select | ENSP00000360777.3:p.Pro597= | |
| ENST00000676019.1:c.1689G>C | ENSP00000501984.1:p.Pro563= | |
| ENST00000371712.3:c.1791G>C | ENSP00000360777.3:p.Pro597= | |
| NM_019892.4:c.1791G>C | NP_063945.2:p.Pro597= | |
| XM_005266094.2:c.1788G>C | XP_005266151.1:p.Pro596= | |
| NM_001318502.1:c.1788G>C | NP_001305431.1:p.Pro596= | |
| NM_019892.5:c.1791G>C | NP_063945.2:p.Pro597= | |
| XM_017014926.1:c.1791G>C | XP_016870415.1:p.Pro597= | |
| XR_929828.2:n.2396G>C | ||
| NM_019892.6:c.1791G>C MANE Select | NP_063945.2:p.Pro597= | |
| NM_001318502.2:c.1788G>C | NP_001305431.1:p.Pro596= |