Linked Data
ClinVar Variation Id:
2204738
ClinVar RCV Id:
RCV004070992
dbSNP Id:
rs371717727
ExAC:
3:129547158 C / T
gnomAD v2:
3-129547158-C-T
gnomAD v3:
3-129828315-C-T
gnomAD v4:
3-129828315-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129828315C>T , CM000665.2:g.129828315C>T | GRCh38 |
| NC_000003.11:g.129547158C>T , CM000665.1:g.129547158C>T | GRCh37 |
| NC_000003.10:g.131029848C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393238.8:c.64G>A MANE Select | ENSP00000376930.3:p.Ala22Thr | |
| ENST00000648771.1:c.-41-238G>A | ENSP00000497993.1:n.-41-238G>A | |
| ENST00000393238.7:c.64G>A | ENSP00000376930.3:p.Ala22Thr | |
| ENST00000426664.6:c.-41-238G>A | ENSP00000389892.2:n.-41-238G>A | |
| ENST00000505616.5:c.-41-238G>A | ENSP00000422544.1:n.-41-238G>A | |
| ENST00000505924.5:n.344-238G>A | ||
| ENST00000513411.5:c.-41-238G>A | ENSP00000427352.1:n.-41-238G>A | |
| NM_001017395.3:c.64G>A | NP_001017395.2:p.Ala22Thr | |
| NM_001128224.2:c.-41-238G>A | NP_001121696.1:n.-41-238G>A | |
| XM_006713542.2:c.64G>A | XP_006713605.1:p.Ala22Thr | |
| XM_006713543.2:c.64G>A | XP_006713606.1:p.Ala22Thr | |
| XM_006713544.1:c.64G>A | XP_006713607.1:p.Ala22Thr | |
| XM_006713545.2:c.64G>A | XP_006713608.1:p.Ala22Thr | |
| XM_006713550.2:c.-41-238G>A | XP_006713613.1:n.-41-238G>A | |
| XM_011512568.1:c.64G>A | XP_011510870.1:p.Ala22Thr | |
| XM_011512569.1:c.64G>A | XP_011510871.1:p.Ala22Thr | |
| XM_011512570.1:c.64G>A | XP_011510872.1:p.Ala22Thr | |
| XM_011512571.1:c.64G>A | XP_011510873.1:p.Ala22Thr | |
| XM_011512572.1:c.64G>A | XP_011510874.1:p.Ala22Thr | |
| XM_011512573.1:c.64G>A | XP_011510875.1:p.Ala22Thr | |
| XM_011512574.1:c.64G>A | XP_011510876.1:p.Ala22Thr | |
| XM_011512575.1:c.64G>A | XP_011510877.1:p.Ala22Thr | |
| XM_011512576.1:c.64G>A | XP_011510878.1:p.Ala22Thr | |
| XM_011512577.1:c.64G>A | XP_011510879.1:p.Ala22Thr | |
| XM_011512578.1:c.64G>A | XP_011510880.1:p.Ala22Thr | |
| XM_011512579.1:c.64G>A | XP_011510881.1:p.Ala22Thr | |
| XM_011512580.1:c.-41-238G>A | XP_011510882.1:n.-41-238G>A | |
| XM_011512581.1:c.-41-238G>A | XP_011510883.1:n.-41-238G>A | |
| XM_011512583.1:c.6+4459G>A | XP_011510885.1:n.6+4459G>A | |
| XM_011512584.1:c.6+4459G>A | XP_011510886.1:n.6+4459G>A | |
| NM_001017395.4:c.64G>A | NP_001017395.2:p.Ala22Thr | |
| NM_001349263.1:c.64G>A | NP_001336192.1:p.Ala22Thr | |
| NM_001349264.1:c.64G>A | NP_001336193.1:p.Ala22Thr | |
| NM_001349265.1:c.64G>A | NP_001336194.1:p.Ala22Thr | |
| NM_001349266.1:c.64G>A | NP_001336195.1:p.Ala22Thr | |
| NM_001349268.1:c.64G>A | NP_001336197.1:p.Ala22Thr | |
| NM_001349269.1:c.-41-238G>A | NP_001336198.1:n.-41-238G>A | |
| NM_001349270.1:c.-41-238G>A | NP_001336199.1:n.-41-238G>A | |
| NM_001349271.1:c.204+51994G>A | NP_001336200.1:n.204+51994G>A | |
| NM_001349275.1:c.6+4459G>A | NP_001336204.1:n.6+4459G>A | |
| NM_001349276.1:c.6+4459G>A | NP_001336205.1:n.6+4459G>A | |
| XM_011512573.2:c.64G>A | XP_011510875.1:p.Ala22Thr | |
| XM_011512580.2:c.-41-238G>A | XP_011510882.1:n.-41-238G>A | |
| XM_011512583.2:c.6+4459G>A | XP_011510885.1:n.6+4459G>A | |
| XM_017005931.1:c.64G>A | XP_016861420.1:p.Ala22Thr | |
| XM_017005933.1:c.64G>A | XP_016861422.1:p.Ala22Thr | |
| XM_017005934.1:c.-41-238G>A | XP_016861423.1:n.-41-238G>A | |
| XM_017005935.1:c.-41-238G>A | XP_016861424.1:n.-41-238G>A | |
| XM_017005937.1:c.-41-238G>A | XP_016861426.1:n.-41-238G>A | |
| XM_017005938.1:c.-41-238G>A | XP_016861427.1:n.-41-238G>A | |
| XM_017005939.1:c.-41-238G>A | XP_016861428.1:n.-41-238G>A | |
| XM_024453406.1:c.-41-238G>A | XP_024309174.1:n.-41-238G>A | |
| XM_024453407.1:c.6+4459G>A | XP_024309175.1:n.6+4459G>A | |
| NM_001017395.5:c.64G>A MANE Select | NP_001017395.2:p.Ala22Thr | |
| NM_001349263.2:c.64G>A | NP_001336192.1:p.Ala22Thr | |
| NM_001349264.2:c.64G>A | NP_001336193.1:p.Ala22Thr | |
| NM_001349265.2:c.64G>A | NP_001336194.1:p.Ala22Thr | |
| NM_001349266.2:c.64G>A | NP_001336195.1:p.Ala22Thr | |
| NM_001349268.2:c.64G>A | NP_001336197.1:p.Ala22Thr | |
| NM_001349269.2:c.-41-238G>A | NP_001336198.1:n.-41-238G>A | |
| NM_001349270.2:c.-41-238G>A | NP_001336199.1:n.-41-238G>A | |
| NM_001349271.2:c.204+51994G>A | NP_001336200.1:n.204+51994G>A | |
| NM_001349275.2:c.6+4459G>A | NP_001336204.1:n.6+4459G>A | |
| NM_001349276.2:c.6+4459G>A | NP_001336205.1:n.6+4459G>A | |
| NM_001128224.3:c.-41-238G>A | NP_001121696.1:n.-41-238G>A |