gnomAD v2:
gnomAD v3:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138930653C>T , CM000667.2:g.138930653C>T | GRCh38 |
| NC_000005.9:g.138266342C>T , CM000667.1:g.138266342C>T | GRCh37 |
| NC_000005.8:g.138294241C>T | NCBI36 |
| NG_047029.1:g.182258C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302763.12:c.2191C>T MANE Select | ENSP00000304669.7:p.Arg731Ter | |
| ENST00000302763.11:c.2191C>T | ENSP00000304669.7:p.Arg731Ter | |
| ENST00000518825.5:c.2191C>T | ENSP00000427821.1:p.Arg731Ter | |
| ENST00000520520.1:c.16C>T | ENSP00000430076.1:p.Arg6Ter | |
| ENST00000521387.1:n.625C>T | ||
| ENST00000521724.5:c.*1881C>T | ENSP00000431033.1:n.*1881C>T | |
| ENST00000540387.5:c.1081C>T | ENSP00000438476.1:p.Arg361Ter | |
| ENST00000627109.2:c.2191C>T | ENSP00000486200.1:p.Arg731Ter | |
| NM_001290307.1:c.2191C>T | NP_001277236.1:p.Arg731Ter | |
| NM_001290309.1:c.1882C>T | NP_001277238.1:p.Arg628Ter | |
| NM_001290310.1:c.1822C>T | NP_001277239.1:p.Arg608Ter | |
| NM_001290312.1:c.1081C>T | NP_001277241.1:p.Arg361Ter | |
| NM_001903.3:c.2191C>T | NP_001894.2:p.Arg731Ter | |
| XM_005271899.2:c.1081C>T | XP_005271956.1:p.Arg361Ter | |
| XM_006714536.2:c.2191C>T | XP_006714599.1:p.Arg731Ter | |
| XM_011543172.1:c.2191C>T | XP_011541474.1:p.Arg731Ter | |
| NM_001290307.2:c.2191C>T | NP_001277236.1:p.Arg731Ter | |
| NM_001290309.2:c.1882C>T | NP_001277238.1:p.Arg628Ter | |
| NM_001290310.2:c.1822C>T | NP_001277239.1:p.Arg608Ter | |
| NM_001323982.1:c.2191C>T | NP_001310911.1:p.Arg731Ter | |
| NM_001323983.1:c.2191C>T | NP_001310912.1:p.Arg731Ter | |
| NM_001323984.1:c.2191C>T | NP_001310913.1:p.Arg731Ter | |
| NM_001323985.1:c.2191C>T | NP_001310914.1:p.Arg731Ter | |
| NM_001323986.1:c.2098C>T | NP_001310915.1:p.Arg700Ter | |
| NM_001323987.1:c.1081C>T | NP_001310916.1:p.Arg361Ter | |
| NM_001323988.1:c.1081C>T | NP_001310917.1:p.Arg361Ter | |
| NM_001323989.1:c.1081C>T | NP_001310918.1:p.Arg361Ter | |
| NM_001323990.1:c.1081C>T | NP_001310919.1:p.Arg361Ter | |
| NM_001323991.1:c.1081C>T | NP_001310920.1:p.Arg361Ter | |
| NM_001323992.1:c.1081C>T | NP_001310921.1:p.Arg361Ter | |
| NM_001323993.1:c.1081C>T | NP_001310922.1:p.Arg361Ter | |
| NM_001323994.1:c.1081C>T | NP_001310923.1:p.Arg361Ter | |
| NM_001323995.1:c.1081C>T | NP_001310924.1:p.Arg361Ter | |
| NM_001323996.1:c.1081C>T | NP_001310925.1:p.Arg361Ter | |
| NM_001323997.1:c.1081C>T | NP_001310926.1:p.Arg361Ter | |
| NM_001323998.1:c.1081C>T | NP_001310927.1:p.Arg361Ter | |
| NM_001323999.1:c.1081C>T | NP_001310928.1:p.Arg361Ter | |
| NM_001324000.1:c.1081C>T | NP_001310929.1:p.Arg361Ter | |
| NM_001324001.1:c.1081C>T | NP_001310930.1:p.Arg361Ter | |
| NM_001324002.1:c.1081C>T | NP_001310931.1:p.Arg361Ter | |
| NM_001324003.1:c.1081C>T | NP_001310932.1:p.Arg361Ter | |
| NM_001324004.1:c.1081C>T | NP_001310933.1:p.Arg361Ter | |
| NM_001324005.1:c.1081C>T | NP_001310934.1:p.Arg361Ter | |
| NM_001324006.1:c.742C>T | NP_001310935.1:p.Arg248Ter | |
| NM_001324007.1:c.742C>T | NP_001310936.1:p.Arg248Ter | |
| NM_001324008.1:c.742C>T | NP_001310937.1:p.Arg248Ter | |
| NM_001324009.1:c.742C>T | NP_001310938.1:p.Arg248Ter | |
| NM_001324010.1:c.742C>T | NP_001310939.1:p.Arg248Ter | |
| NM_001324011.1:c.988C>T | NP_001310940.1:p.Arg330Ter | |
| NM_001324012.1:c.838C>T | NP_001310941.1:p.Arg280Ter | |
| NM_001324013.1:c.838C>T | NP_001310942.1:p.Arg280Ter | |
| NM_001903.4:c.2191C>T | NP_001894.2:p.Arg731Ter | |
| NM_001903.5:c.2191C>T MANE Select | NP_001894.2:p.Arg731Ter | |
| NM_001290309.3:c.1882C>T | NP_001277238.1:p.Arg628Ter | |
| NM_001290310.3:c.1822C>T | NP_001277239.1:p.Arg608Ter | |
| NM_001323982.2:c.2191C>T | NP_001310911.1:p.Arg731Ter | |
| NM_001323984.2:c.2191C>T | NP_001310913.1:p.Arg731Ter | |
| NM_001323985.2:c.2191C>T | NP_001310914.1:p.Arg731Ter | |
| NM_001323986.2:c.2098C>T | NP_001310915.1:p.Arg700Ter | |
| NM_001290307.3:c.2191C>T | NP_001277236.1:p.Arg731Ter |