Linked Data
ClinVar Variation Id:
88674
ClinVar RCV Id:
RCV000074361
dbSNP Id:
rs397518420
PubMed:
PMID:22040219
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67159416A>C , CM000676.2:g.67159416A>C | GRCh38 |
| NC_000014.8:g.67626133A>C , CM000676.1:g.67626133A>C | GRCh37 |
| NC_000014.7:g.66695886A>C | NCBI36 |
| NG_008875.1:g.657009A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478722.6:c.1838A>C MANE Select | ENSP00000417901.1:p.Asp613Ala | |
| ENST00000315266.9:c.1739A>C | ENSP00000312771.5:p.Asp580Ala | |
| ENST00000478722.5:c.1838A>C | ENSP00000417901.1:p.Asp613Ala | |
| ENST00000543237.5:c.1877A>C | ENSP00000438404.1:p.Asp626Ala | |
| ENST00000544752.6:n.1886A>C | ||
| ENST00000555503.1:c.314A>C | ENSP00000452009.1:p.Asp105Ala | |
| ENST00000555527.1:n.370-5746A>C | ||
| ENST00000557678.1:n.451A>C | ||
| NM_001024218.1:c.1739A>C | NP_001019389.1:p.Asp580Ala | |
| NM_020806.4:c.1838A>C | NP_065857.1:p.Asp613Ala | |
| XM_005267254.2:c.1796A>C | XP_005267311.1:p.Asp599Ala | |
| XM_011536340.1:c.2006A>C | XP_011534642.1:p.Asp669Ala | |
| XM_011536342.1:c.1967A>C | XP_011534644.1:p.Asp656Ala | |
| XM_011536343.1:c.1934A>C | XP_011534645.1:p.Asp645Ala | |
| XM_011536344.1:c.1907A>C | XP_011534646.1:p.Asp636Ala | |
| XM_011536345.1:c.1877A>C | XP_011534647.1:p.Asp626Ala | |
| XM_011536346.1:c.1868A>C | XP_011534648.1:p.Asp623Ala | |
| XM_011536347.1:c.1778A>C | XP_011534649.1:p.Asp593Ala | |
| XM_011536348.1:c.989A>C | XP_011534650.1:p.Asp330Ala | |
| XR_943947.1:n.123-5566T>G | ||
| XR_943948.1:n.789+760T>G | ||
| XR_943949.1:n.123-5566T>G | ||
| XM_005267254.4:c.1796A>C | XP_005267311.1:p.Asp599Ala | |
| XM_011536340.3:c.2006A>C | XP_011534642.1:p.Asp669Ala | |
| XM_011536342.3:c.1967A>C | XP_011534644.1:p.Asp656Ala | |
| XM_011536343.3:c.1934A>C | XP_011534645.1:p.Asp645Ala | |
| XM_011536344.3:c.1907A>C | XP_011534646.1:p.Asp636Ala | |
| XM_011536345.3:c.1877A>C | XP_011534647.1:p.Asp626Ala | |
| XM_011536346.3:c.1868A>C | XP_011534648.1:p.Asp623Ala | |
| XM_011536347.2:c.1778A>C | XP_011534649.1:p.Asp593Ala | |
| XM_017020913.2:c.1997A>C | XP_016876402.1:p.Asp666Ala | |
| XM_017020914.2:c.1949A>C | XP_016876403.1:p.Asp650Ala | |
| XM_017020915.2:c.1898A>C | XP_016876404.1:p.Asp633Ala | |
| XM_017020916.2:c.1859A>C | XP_016876405.1:p.Asp620Ala | |
| XM_017020917.2:c.1850A>C | XP_016876406.1:p.Asp617Ala | |
| XM_017020918.2:c.1835A>C | XP_016876407.1:p.Asp612Ala | |
| XM_017020919.2:c.1811A>C | XP_016876408.1:p.Asp604Ala | |
| XM_017020920.2:c.1697A>C | XP_016876409.1:p.Asp566Ala | |
| XM_017020921.1:c.1637A>C | XP_016876410.1:p.Asp546Ala | |
| XM_017020922.1:c.1637A>C | XP_016876411.1:p.Asp546Ala | |
| XM_017020923.1:c.1508A>C | XP_016876412.1:p.Asp503Ala | |
| XM_017020924.1:c.989A>C | XP_016876413.1:p.Asp330Ala | |
| XM_017020925.2:c.1312+100630A>C | XP_016876414.1:n.1312+100630A>C | |
| XM_017020926.1:c.917A>C | XP_016876415.1:p.Asp306Ala | |
| XR_001750990.1:n.86-5566T>G | ||
| NM_001377514.1:c.1898A>C | NP_001364443.1:p.Asp633Ala | |
| NM_001377515.1:c.1868A>C | NP_001364444.1:p.Asp623Ala | |
| NM_001377516.1:c.1859A>C | NP_001364445.1:p.Asp620Ala | |
| NM_001377517.1:c.1811A>C | NP_001364446.1:p.Asp604Ala | |
| NM_001377518.1:c.1796A>C | NP_001364447.1:p.Asp599Ala | |
| NM_001377519.1:c.1778A>C | NP_001364448.1:p.Asp593Ala | |
| NM_001024218.2:c.1739A>C | NP_001019389.1:p.Asp580Ala | |
| NM_020806.5:c.1838A>C MANE Select | NP_065857.1:p.Asp613Ala |