gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02352014 (MID)
Genomes Max Group AF
0.02009886 (NFE)
Exomes Max Group AF
0.02342288 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156176898G>A , CM000663.2:g.156176898G>A | GRCh38 |
| NC_000001.10:g.156146689G>A , CM000663.1:g.156146689G>A | GRCh37 |
| NC_000001.9:g.154413313G>A | NCBI36 |
| NG_027683.1:g.31955G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368285.8:c.2187G>A MANE Select | ENSP00000357268.3:p.Pro729= | |
| ENST00000355014.6:c.2187G>A | ENSP00000347117.2:p.Pro729= | |
| ENST00000368282.1:c.2187G>A | ENSP00000357265.1:p.Pro729= | |
| ENST00000368284.5:c.1791G>A | ENSP00000357267.1:p.Pro597= | |
| ENST00000368285.7:c.2187G>A | ENSP00000357268.3:p.Pro729= | |
| ENST00000368286.6:c.2073G>A | ENSP00000357269.3:p.Pro691= | |
| NM_001193300.1:c.2187G>A | NP_001180229.1:p.Pro729= | |
| NM_001193301.1:c.2187G>A | NP_001180230.1:p.Pro729= | |
| NM_001193302.1:c.1791G>A | NP_001180231.1:p.Pro597= | |
| NM_022367.3:c.2187G>A | NP_071762.2:p.Pro729= | |
| XM_011509871.1:c.2073G>A | XP_011508173.1:p.Pro691= | |
| XM_011509872.1:c.2187G>A | XP_011508174.1:p.Pro729= | |
| XM_011509873.1:c.2187G>A | XP_011508175.1:p.Pro729= | |
| XM_011509874.1:c.1890G>A | XP_011508176.1:p.Pro630= | |
| XM_011509875.1:c.1890G>A | XP_011508177.1:p.Pro630= | |
| XM_011509876.1:c.1890G>A | XP_011508178.1:p.Pro630= | |
| XM_011509877.1:c.1890G>A | XP_011508179.1:p.Pro630= | |
| XM_011509878.1:c.1890G>A | XP_011508180.1:p.Pro630= | |
| XM_011509879.1:c.1680G>A | XP_011508181.1:p.Pro560= | |
| XM_011509871.3:c.2073G>A | XP_011508173.1:p.Pro691= | |
| XM_011509872.2:c.2187G>A | XP_011508174.1:p.Pro729= | |
| XM_011509873.2:c.2187G>A | XP_011508175.1:p.Pro729= | |
| XM_011509874.2:c.1890G>A | XP_011508176.1:p.Pro630= | |
| XM_011509875.3:c.1890G>A | XP_011508177.1:p.Pro630= | |
| XM_011509876.2:c.1890G>A | XP_011508178.1:p.Pro630= | |
| XM_011509878.2:c.1890G>A | XP_011508180.1:p.Pro630= | |
| XM_011509879.2:c.1680G>A | XP_011508181.1:p.Pro560= | |
| XM_017002056.1:c.2187G>A | XP_016857545.1:p.Pro729= | |
| XM_017002057.1:c.1680G>A | XP_016857546.1:p.Pro560= | |
| NM_022367.4:c.2187G>A MANE Select | NP_071762.2:p.Pro729= | |
| NM_001193300.2:c.2187G>A | NP_001180229.1:p.Pro729= | |
| NM_001370567.1:c.2187G>A | NP_001357496.1:p.Pro729= | |
| NM_001370568.1:c.1890G>A | NP_001357497.1:p.Pro630= | |
| NM_001370569.1:c.1680G>A | NP_001357498.1:p.Pro560= | |
| NM_001370571.1:c.1680G>A | NP_001357500.1:p.Pro560= | |
| NM_001193301.2:c.2187G>A | NP_001180230.1:p.Pro729= | |
| NM_001193302.2:c.1791G>A | NP_001180231.1:p.Pro597= |