Linked Data
ClinVar Variation Id:
161738
ClinVar RCV Id:
RCV000149274
dbSNP Id:
rs34816083
ExAC:
14:94084641 C / T
gnomAD v2:
14-94084641-C-T
gnomAD v3:
14-93618295-C-T
gnomAD v4:
14-93618295-C-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93618295C>T , CM000676.2:g.93618295C>T | GRCh38 |
| NC_000014.8:g.94084641C>T , CM000676.1:g.94084641C>T | GRCh37 |
| NC_000014.7:g.93154394C>T | NCBI36 |
| NG_051662.1:g.290077C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695012.1:c.4394C>T MANE Select | ENSP00000511643.1:p.Thr1465Met | |
| ENST00000695013.1:c.4328C>T | ENSP00000511644.1:p.Thr1443Met | |
| ENST00000256339.8:c.3797C>T | ENSP00000256339.4:p.Thr1266Met | |
| ENST00000393151.6:c.4328C>T | ENSP00000376858.2:p.Thr1443Met | |
| ENST00000553484.5:c.4394C>T | ENSP00000451360.1:p.Thr1465Met | |
| ENST00000555664.5:c.4328C>T | ENSP00000450868.1:p.Thr1443Met | |
| ENST00000621021.1:c.3797C>T | ENSP00000480937.1:p.Thr1266Met | |
| NM_020818.3:c.3797C>T | NP_065869.3:p.Thr1266Met | |
| XM_011537018.1:c.4529C>T | XP_011535320.1:p.Thr1510Met | |
| XM_011537019.1:c.4526C>T | XP_011535321.1:p.Thr1509Met | |
| XM_011537020.1:c.4463C>T | XP_011535322.1:p.Thr1488Met | |
| XM_011537021.1:c.4394C>T | XP_011535323.1:p.Thr1465Met | |
| XM_011537022.1:c.4529C>T | XP_011535324.1:p.Thr1510Met | |
| XM_011537023.1:c.4370C>T | XP_011535325.1:p.Thr1457Met | |
| XM_011537024.1:c.4307C>T | XP_011535326.1:p.Thr1436Met | |
| XM_011537025.1:c.4529C>T | XP_011535327.1:p.Thr1510Met | |
| XM_011537026.1:c.4193C>T | XP_011535328.1:p.Thr1398Met | |
| XM_011537027.1:c.4193C>T | XP_011535329.1:p.Thr1398Met | |
| XM_011537028.1:c.3797C>T | XP_011535330.1:p.Thr1266Met | |
| XM_011537029.1:c.3290C>T | XP_011535331.1:p.Thr1097Met | |
| XR_943499.1:n.5406C>T | ||
| NM_001346218.1:c.4328C>T | NP_001333147.1:p.Thr1443Met | |
| NM_020818.4:c.3797C>T | NP_065869.3:p.Thr1266Met | |
| XM_011537018.2:c.4529C>T | XP_011535320.1:p.Thr1510Met | |
| XM_011537020.2:c.4463C>T | XP_011535322.1:p.Thr1488Met | |
| XM_011537021.2:c.4394C>T | XP_011535323.1:p.Thr1465Met | |
| XM_011537022.2:c.4529C>T | XP_011535324.1:p.Thr1510Met | |
| XM_011537023.2:c.4370C>T | XP_011535325.1:p.Thr1457Met | |
| XM_011537024.2:c.4307C>T | XP_011535326.1:p.Thr1436Met | |
| XM_011537025.2:c.4529C>T | XP_011535327.1:p.Thr1510Met | |
| XM_011537026.2:c.4193C>T | XP_011535328.1:p.Thr1398Met | |
| XM_011537027.2:c.4193C>T | XP_011535329.1:p.Thr1398Met | |
| XM_011537028.2:c.3797C>T | XP_011535330.1:p.Thr1266Met | |
| XM_011537029.2:c.3290C>T | XP_011535331.1:p.Thr1097Met | |
| XM_017021506.1:c.4427C>T | XP_016876995.1:p.Thr1476Met | |
| XM_017021507.1:c.4529C>T | XP_016876996.1:p.Thr1510Met | |
| XM_017021508.1:c.4529C>T | XP_016876997.1:p.Thr1510Met | |
| XM_017021509.1:c.4370C>T | XP_016876998.1:p.Thr1457Met | |
| XM_017021510.1:c.4463C>T | XP_016876999.1:p.Thr1488Met | |
| XM_017021513.1:c.4463C>T | XP_016877002.1:p.Thr1488Met | |
| XM_017021514.1:c.4529C>T | XP_016877003.1:p.Thr1510Met | |
| XM_017021515.1:c.4235C>T | XP_016877004.1:p.Thr1412Met | |
| XM_017021516.1:c.4463C>T | XP_016877005.1:p.Thr1488Met | |
| XM_017021517.1:c.4304C>T | XP_016877006.1:p.Thr1435Met | |
| XM_017021518.1:c.3431C>T | XP_016877007.1:p.Thr1144Met | |
| XM_017021519.1:c.3317C>T | XP_016877008.1:p.Thr1106Met | |
| XM_017021520.1:c.2141C>T | XP_016877009.1:p.Thr714Met | |
| XM_024449667.1:c.4361C>T | XP_024305435.1:p.Thr1454Met | |
| XM_024449668.1:c.4208C>T | XP_024305436.1:p.Thr1403Met | |
| NM_001346218.2:c.4328C>T | NP_001333147.1:p.Thr1443Met | |
| NM_020818.5:c.3797C>T | NP_065869.3:p.Thr1266Met | |
| NM_001395159.1:c.4394C>T MANE Select | NP_001382088.1:p.Thr1465Met |