Linked Data
ClinVar Variation Id:
163849
dbSNP Id:
rs727503128
gnomAD v2:
10-88476459-T-C
gnomAD v4:
10-86716702-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86716702T>C , CM000672.2:g.86716702T>C | GRCh38 |
| NC_000010.10:g.88476459T>C , CM000672.1:g.88476459T>C | GRCh37 |
| NC_000010.9:g.88466439T>C | NCBI36 |
| NG_008876.1:g.53139T>C , LRG_385:g.53139T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687154.1:n.515-2025T>C | ||
| ENST00000688001.1:c.1418T>C | ENSP00000508987.1:p.Val473Ala | |
| ENST00000689296.1:c.1418T>C | ENSP00000510609.1:p.Val473Ala | |
| ENST00000689740.1:c.1466T>C | ENSP00000510300.1:p.Val489Ala | |
| ENST00000693680.1:c.1466T>C | ENSP00000509539.1:p.Val489Ala | |
| ENST00000361373.9:c.1607T>C MANE Select | ENSP00000355296.3:p.Val536Ala | |
| ENST00000429277.7:c.1277T>C | ENSP00000401437.3:p.Val426Ala | |
| ENST00000623056.4:c.1622T>C | ENSP00000485500.1:p.Val541Ala | |
| ENST00000263066.10:c.1277T>C | ENSP00000263066.6:p.Val426Ala | |
| ENST00000361373.8:c.1607T>C | ENSP00000355296.3:p.Val536Ala | |
| ENST00000429277.6:c.1622T>C | ENSP00000401437.2:p.Val541Ala | |
| ENST00000623056.3:c.1622T>C | ENSP00000485500.1:p.Val541Ala | |
| NM_001080114.1:c.1277T>C | NP_001073583.1:p.Val426Ala | |
| NM_001171610.1:c.1622T>C | NP_001165081.1:p.Val541Ala | |
| NM_007078.2:c.1607T>C , LRG_385t1:c.1607T>C | NP_009009.1:p.Val536Ala | |
| XM_005269464.3:c.1607T>C | XP_005269521.1:p.Val536Ala | |
| XM_005269466.3:c.1418T>C | XP_005269523.1:p.Val473Ala | |
| XM_011539184.1:c.1859T>C | XP_011537486.1:p.Val620Ala | |
| XM_011539185.1:c.1859T>C | XP_011537487.1:p.Val620Ala | |
| XM_011539186.1:c.1811T>C | XP_011537488.1:p.Val604Ala | |
| XM_011539187.1:c.1670T>C | XP_011537489.1:p.Val557Ala | |
| XM_011539188.1:c.1655T>C | XP_011537490.1:p.Val552Ala | |
| XM_011539189.1:c.1514T>C | XP_011537491.1:p.Val505Ala | |
| XM_011539190.1:c.1466T>C | XP_011537492.1:p.Val489Ala | |
| XM_011539191.1:c.1325T>C | XP_011537493.1:p.Val442Ala | |
| XM_011539192.1:c.1310T>C | XP_011537494.1:p.Val437Ala | |
| XM_011539193.1:c.815T>C | XP_011537495.1:p.Val272Ala | |
| XM_011539194.1:c.626T>C | XP_011537496.1:p.Val209Ala | |
| XM_005269464.4:c.1607T>C | XP_005269521.1:p.Val536Ala | |
| XM_005269466.4:c.1418T>C | XP_005269523.1:p.Val473Ala | |
| XM_011539184.2:c.1859T>C | XP_011537486.1:p.Val620Ala | |
| XM_011539185.2:c.1859T>C | XP_011537487.1:p.Val620Ala | |
| XM_011539186.2:c.1811T>C | XP_011537488.1:p.Val604Ala | |
| XM_011539187.2:c.1670T>C | XP_011537489.1:p.Val557Ala | |
| XM_011539188.2:c.1655T>C | XP_011537490.1:p.Val552Ala | |
| XM_011539190.2:c.1466T>C | XP_011537492.1:p.Val489Ala | |
| XM_011539191.2:c.1325T>C | XP_011537493.1:p.Val442Ala | |
| XM_017015606.1:c.1655T>C | XP_016871095.1:p.Val552Ala | |
| XM_017015607.1:c.815T>C | XP_016871096.1:p.Val272Ala | |
| XM_024447785.1:c.1514T>C | XP_024303553.1:p.Val505Ala | |
| XM_024447786.1:c.1277T>C | XP_024303554.1:p.Val426Ala | |
| NM_001080114.2:c.1277T>C | NP_001073583.1:p.Val426Ala | |
| NM_001171610.2:c.1622T>C | NP_001165081.1:p.Val541Ala | |
| NM_001368064.1:c.1418T>C | NP_001354993.1:p.Val473Ala | |
| NM_001368065.1:c.1418T>C | NP_001354994.1:p.Val473Ala | |
| NM_001368066.1:c.1466T>C | NP_001354995.1:p.Val489Ala | |
| NM_007078.3:c.1607T>C MANE Select | NP_009009.1:p.Val536Ala |