This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002104 (SAS)
Exomes Max Group AF
0.00002194 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57079227G>A , CM000678.2:g.57079227G>A | GRCh38 |
| NC_000016.9:g.57113139G>A , CM000678.1:g.57113139G>A | GRCh37 |
| NC_000016.8:g.55670640G>A | NCBI36 |
| NG_030337.1:g.67154G>A | |
| NG_030337.3:g.94743G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688547.1:c.5172G>A MANE Select | ENSP00000509992.1:p.Ala1724= | |
| ENST00000262510.10:c.5172G>A | ENSP00000262510.6:p.Ala1724= | |
| ENST00000436936.5:c.5172G>A | ENSP00000389739.2:p.Ala1724= | |
| ENST00000534927.5:n.553G>A | ||
| ENST00000537056.5:c.2005G>A | ||
| ENST00000538453.5:c.2689G>A | ENSP00000444773.1:n.2689G>A | |
| ENST00000539144.5:c.5085G>A | ENSP00000441727.1:p.Ala1695= | |
| ENST00000540182.5:c.2192G>A | ||
| ENST00000545081.5:c.4412G>A | ||
| NM_032206.4:c.5172G>A | NP_115582.4:p.Ala1724= | |
| XM_005256193.1:c.5172G>A | XP_005256250.1:p.Ala1724= | |
| XM_005256194.2:c.5172G>A | XP_005256251.1:p.Ala1724= | |
| XM_005256195.1:c.5169G>A | XP_005256252.1:p.Ala1723= | |
| XM_005256196.1:c.5088G>A | XP_005256253.1:p.Ala1696= | |
| XM_005256197.1:c.5085G>A | XP_005256254.1:p.Ala1695= | |
| XM_006721297.1:c.5172G>A | XP_006721360.1:p.Ala1724= | |
| XM_006721298.1:c.5082G>A | XP_006721361.1:p.Ala1694= | |
| XM_011523373.1:c.5172G>A | XP_011521675.1:p.Ala1724= | |
| XM_011523376.1:c.3036G>A | XP_011521678.1:p.Ala1012= | |
| XR_429734.1:n.5418G>A | ||
| NM_001330552.1:c.5085G>A | NP_001317481.1:p.Ala1695= | |
| XM_005256193.2:c.5172G>A | XP_005256250.1:p.Ala1724= | |
| XM_005256194.4:c.5172G>A | XP_005256251.1:p.Ala1724= | |
| XM_005256195.2:c.5169G>A | XP_005256252.1:p.Ala1723= | |
| XM_005256196.2:c.5088G>A | XP_005256253.1:p.Ala1696= | |
| XM_005256197.2:c.5085G>A | XP_005256254.1:p.Ala1695= | |
| XM_006721297.2:c.5172G>A | XP_006721360.1:p.Ala1724= | |
| XM_006721298.2:c.5082G>A | XP_006721361.1:p.Ala1694= | |
| XM_011523373.2:c.5172G>A | XP_011521675.1:p.Ala1724= | |
| XM_011523376.2:c.3036G>A | XP_011521678.1:p.Ala1012= | |
| XR_001751997.1:n.5476G>A | ||
| XR_001751998.1:n.5372G>A | ||
| XR_001751999.1:n.5288G>A | ||
| XR_429734.2:n.5418G>A | ||
| NM_001330552.2:c.5085G>A | NP_001317481.1:p.Ala1695= | |
| NM_001384950.1:c.5172G>A MANE Select | NP_001371879.1:p.Ala1724= | |
| NM_001384951.1:c.5085G>A | NP_001371880.1:p.Ala1695= | |
| NM_001384952.1:c.5169G>A | NP_001371881.1:p.Ala1723= | |
| NM_001384953.1:c.5169G>A | NP_001371882.1:p.Ala1723= | |
| NM_001384954.1:c.5088G>A | NP_001371883.1:p.Ala1696= | |
| NM_001384955.1:c.5085G>A | NP_001371884.1:p.Ala1695= | |
| NM_001384956.1:c.5085G>A | NP_001371885.1:p.Ala1695= | |
| NM_001384957.1:c.5082G>A | NP_001371886.1:p.Ala1694= | |
| NM_001384958.1:c.4998G>A | NP_001371887.1:p.Ala1666= | |
| NM_001384959.1:c.4995G>A | NP_001371888.1:p.Ala1665= | |
| NM_001384960.1:c.4911G>A | NP_001371889.1:p.Ala1637= | |
| NM_032206.5:c.5172G>A | NP_115582.4:p.Ala1724= | |
| NR_169512.1:n.5299G>A | ||
| NR_169513.1:n.5291G>A | ||
| NR_169515.1:n.5259G>A | ||
| NR_169516.1:n.5422G>A | ||
| NR_169517.1:n.5415G>A | ||
| NR_169518.1:n.5397G>A | ||
| NR_169519.1:n.5628G>A | ||
| NR_169520.1:n.5321G>A |