Linked Data
ClinVar Variation Id:
38978
dbSNP Id:
rs138439950
ExAC:
16:66575840 T / C
gnomAD v2:
16-66575840-T-C
gnomAD v3:
16-66541937-T-C
gnomAD v4:
16-66541937-T-C
PubMed:
PMID:23230576
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66541937T>C , CM000678.2:g.66541937T>C | GRCh38 |
| NC_000016.9:g.66575840T>C , CM000678.1:g.66575840T>C | GRCh37 |
| NC_000016.8:g.65133341T>C | NCBI36 |
| NG_016862.1:g.13476A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299697.12:c.64-4920A>G | ENSP00000299697.9:n.64-4920A>G | |
| ENST00000417693.8:c.173A>G | ENSP00000407469.5:p.Asn58Ser | |
| ENST00000451102.7:c.80A>G | ENSP00000414334.4:p.Asn27Ser | |
| ENST00000527284.6:c.117A>G | ||
| ENST00000527800.6:c.-119A>G | ENSP00000433770.1:n.-119A>G | |
| ENST00000544898.6:c.173A>G MANE Select | ENSP00000440898.2:p.Asn58Ser | |
| ENST00000567357.6:c.*31A>G | ENSP00000457959.2:n.*31A>G | |
| ENST00000569718.6:c.80A>G | ENSP00000464313.2:p.Asn27Ser | |
| ENST00000620035.5:c.157-4920A>G | ENSP00000483833.2:n.157-4920A>G | |
| ENST00000676536.1:c.129A>G | ||
| ENST00000676538.1:c.32+7041A>G | ||
| ENST00000677412.1:c.124A>G | ||
| ENST00000677420.1:c.-65A>G | ENSP00000504648.1:n.-65A>G | |
| ENST00000677541.1:c.166A>G | ||
| ENST00000677555.1:c.-60-4920A>G | ENSP00000503331.1:n.-60-4920A>G | |
| ENST00000677715.1:c.-119A>G | ENSP00000502950.1:n.-119A>G | |
| ENST00000678015.1:c.-119A>G | ENSP00000502959.1:n.-119A>G | |
| ENST00000678205.1:c.186A>G | ||
| ENST00000678297.1:c.-60-4920A>G | ENSP00000503472.1:n.-60-4920A>G | |
| ENST00000678314.1:c.-60-4920A>G | ENSP00000504438.1:n.-60-4920A>G | |
| ENST00000678336.1:n.160A>G | ||
| ENST00000678864.1:n.96-4920A>G | ||
| ENST00000679154.1:c.32+7041A>G | ||
| ENST00000679327.1:n.1144A>G | ||
| ENST00000299697.11:c.173A>G | ENSP00000299697.8:p.Asn58Ser | |
| ENST00000417693.7:c.299A>G | ENSP00000407469.4:p.Asn100Ser | |
| ENST00000451102.6:c.299A>G | ENSP00000414334.3:p.Asn100Ser | |
| ENST00000525974.5:c.-119A>G | ENSP00000434594.1:n.-119A>G | |
| ENST00000527284.5:c.80A>G | ENSP00000435312.1:p.Asn27Ser | |
| ENST00000527800.5:c.-119A>G | ENSP00000433770.1:n.-119A>G | |
| ENST00000544898.5:c.173A>G | ENSP00000440898.2:p.Asn58Ser | |
| ENST00000545043.6:c.157-4920A>G | ENSP00000438143.2:n.157-4920A>G | |
| ENST00000562484.2:c.-119A>G | ENSP00000463326.1:n.-119A>G | |
| ENST00000563369.6:c.-119A>G | ENSP00000463560.1:n.-119A>G | |
| ENST00000563478.5:c.-119A>G | ENSP00000462341.1:n.-119A>G | |
| ENST00000564917.5:c.173A>G | ENSP00000455187.1:p.Asn58Ser | |
| ENST00000567357.5:c.*31A>G | ENSP00000457959.1:n.*31A>G | |
| ENST00000569718.5:c.67A>G | ||
| ENST00000620035.4:c.173A>G | ENSP00000483833.1:p.Asn58Ser | |
| NM_001172643.1:c.80A>G | NP_001166114.1:p.Asn27Ser | |
| NM_001172644.1:c.157-4920A>G | NP_001166115.1:n.157-4920A>G | |
| NM_001172645.1:c.173A>G | NP_001166116.1:p.Asn58Ser | |
| NM_001271934.1:c.26A>G | NP_001258863.1:p.Asn9Ser | |
| NM_001271935.1:c.80A>G | NP_001258864.1:p.Asn27Ser | |
| NM_001272050.1:c.-119A>G | NP_001258979.1:n.-119A>G | |
| NM_004614.4:c.173A>G | NP_004605.4:p.Asn58Ser | |
| NR_073520.1:n.1452A>G | ||
| NM_001172644.2:c.157-4920A>G | NP_001166115.1:n.157-4920A>G | |
| NM_001271934.2:c.26A>G | NP_001258863.1:p.Asn9Ser | |
| NM_001272050.2:c.-119A>G | NP_001258979.1:n.-119A>G | |
| NM_004614.5:c.173A>G MANE Select | NP_004605.4:p.Asn58Ser | |
| NR_073520.2:n.1162A>G | ||
| NM_001172645.2:c.173A>G | NP_001166116.1:p.Asn58Ser |