Linked Data
ClinVar Variation Id:
364498
ClinVar RCV Id:
RCV001653745
dbSNP Id:
rs2768282
gnomAD v2:
9-108398678-A-G
gnomAD v3:
9-105636397-A-G
gnomAD v4:
9-105636397-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.105636397A>G , CM000671.2:g.105636397A>G | GRCh38 |
| NC_000009.11:g.108398678A>G , CM000671.1:g.108398678A>G | GRCh37 |
| NC_000009.10:g.107438499A>G | NCBI36 |
| NG_008754.1:g.83268A>G , LRG_434:g.83268A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357998.10:c.*1133A>G MANE Select | ENSP00000350687.6:n.*1133A>G | |
| ENST00000642177.1:c.*486-276A>G | ENSP00000495864.1:n.*486-276A>G | |
| ENST00000642537.1:c.*1539-276A>G | ENSP00000495945.1:n.*1539-276A>G | |
| ENST00000642952.1:c.1610+1249A>G | ENSP00000493886.1:n.1610+1249A>G | |
| ENST00000644273.1:c.553+1249A>G | ||
| ENST00000645933.1:c.*1584-276A>G | ENSP00000495852.1:n.*1584-276A>G | |
| ENST00000674563.1:c.*1500A>G | ENSP00000502153.1:n.*1500A>G | |
| ENST00000674633.1:c.1270+1249A>G | ENSP00000502164.1:n.1270+1249A>G | |
| ENST00000675695.1:c.*1500A>G | ENSP00000502460.1:n.*1500A>G | |
| ENST00000675736.1:c.*2299A>G | ENSP00000502809.1:n.*2299A>G | |
| ENST00000676011.1:n.3883A>G | ||
| ENST00000676310.1:c.1270+1249A>G | ENSP00000501585.1:n.1270+1249A>G | |
| ENST00000223528.6:c.*1133A>G | ENSP00000223528.2:n.*1133A>G | |
| ENST00000357998.9:c.1270+1249A>G | ENSP00000350687.5:n.1270+1249A>G | |
| ENST00000448551.6:c.1270+1249A>G | ENSP00000399140.2:n.1270+1249A>G | |
| ENST00000457847.1:c.361-276A>G | ||
| ENST00000602526.1:c.*2557A>G | ENSP00000473347.1:n.*2557A>G | |
| NM_001079802.1:c.*1133A>G , LRG_434t1:c.*1133A>G | NP_001073270.1:n.*1133A>G | |
| NM_001198963.1:c.1270+1249A>G | NP_001185892.1:n.1270+1249A>G | |
| NM_006731.2:c.*1133A>G , LRG_434t2:c.*1133A>G | NP_006722.2:n.*1133A>G | |
| XM_006717014.2:c.*1311A>G | XP_006717077.1:n.*1311A>G | |
| NM_001351496.1:c.*1133A>G | NP_001338425.1:n.*1133A>G | |
| NM_001351497.1:c.*1133A>G | NP_001338426.1:n.*1133A>G | |
| NM_001351498.1:c.*1311A>G | NP_001338427.1:n.*1311A>G | |
| NM_001351499.1:c.*1133A>G | NP_001338428.1:n.*1133A>G | |
| NM_001351500.1:c.*1133A>G | NP_001338429.1:n.*1133A>G | |
| NM_001351501.1:c.*1133A>G | NP_001338430.1:n.*1133A>G | |
| NM_001351502.1:c.*1133A>G | NP_001338431.1:n.*1133A>G | |
| NR_147213.1:n.2643A>G | ||
| NR_147214.1:n.2815A>G | ||
| XM_011518391.2:c.*1311A>G | XP_011516693.1:n.*1311A>G | |
| XM_017014464.1:c.1270+1249A>G | XP_016869953.1:n.1270+1249A>G | |
| XM_017014465.1:c.1270+1249A>G | XP_016869954.1:n.1270+1249A>G | |
| XM_017014467.1:c.*1133A>G | XP_016869956.1:n.*1133A>G | |
| XM_017014468.1:c.*1133A>G | XP_016869957.1:n.*1133A>G | |
| XM_017014469.1:c.1270+1249A>G | XP_016869958.1:n.1270+1249A>G | |
| XM_017014470.1:c.1270+1249A>G | XP_016869959.1:n.1270+1249A>G | |
| XR_001746242.2:n.1837+1249A>G | ||
| XR_001746244.2:n.1665+1249A>G | ||
| XR_001746245.1:n.2905A>G | ||
| XR_001746248.1:n.3998A>G | ||
| XR_002956770.1:n.2761A>G | ||
| NM_001079802.2:c.*1133A>G MANE Select | NP_001073270.1:n.*1133A>G | |
| NM_001198963.2:c.1270+1249A>G | NP_001185892.1:n.1270+1249A>G | |
| NM_001351496.2:c.*1133A>G | NP_001338425.1:n.*1133A>G | |
| NM_001351497.2:c.*1133A>G | NP_001338426.1:n.*1133A>G | |
| NM_001351498.2:c.*1311A>G | NP_001338427.1:n.*1311A>G | |
| NM_001351499.2:c.*1133A>G | NP_001338428.1:n.*1133A>G | |
| NM_001351500.2:c.*1133A>G | NP_001338429.1:n.*1133A>G | |
| NM_001351501.2:c.*1133A>G | NP_001338430.1:n.*1133A>G | |
| NM_001351502.2:c.*1133A>G | NP_001338431.1:n.*1133A>G | |
| NR_147213.2:n.2642A>G | ||
| NR_147214.2:n.2814A>G |