Linked Data
ClinVar Variation Id:
331363
dbSNP Id:
rs13431173
ExAC:
2:1499870 A / G
gnomAD v2:
2-1499870-A-G
gnomAD v3:
2-1496098-A-G
gnomAD v4:
2-1496098-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1496098A>G , CM000664.2:g.1496098A>G | GRCh38 |
| NC_000002.11:g.1499870A>G , CM000664.1:g.1499870A>G | GRCh37 |
| NC_000002.10:g.1478877A>G | NCBI36 |
| NG_011581.1:g.87636A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329066.9:c.2116A>G MANE Select | ENSP00000329869.4:p.Met706Val | |
| ENST00000329066.8:c.2116A>G | ENSP00000329869.4:p.Met706Val | |
| ENST00000345913.8:c.2116A>G | ENSP00000318820.7:p.Met706Val | |
| ENST00000346956.7:c.2116A>G | ENSP00000263886.6:p.Met706Val | |
| ENST00000382198.5:c.1597A>G | ENSP00000371633.1:p.Met533Val | |
| ENST00000382201.7:c.1945A>G | ENSP00000371636.3:p.Met649Val | |
| ENST00000422464.5:c.1903A>G | ENSP00000405788.1:p.Met635Val | |
| ENST00000446278.5:c.540A>G | ||
| ENST00000462973.5:n.424+2059A>G | ||
| ENST00000469607.3:c.538A>G | ENSP00000419461.1:p.Met180Val | |
| ENST00000497517.6:n.677+2059A>G | ||
| NM_000547.5:c.2116A>G | NP_000538.3:p.Met706Val | |
| NM_001206744.1:c.2116A>G | NP_001193673.1:p.Met706Val | |
| NM_001206745.1:c.1945A>G | NP_001193674.1:p.Met649Val | |
| NM_175719.3:c.1945A>G | NP_783650.1:p.Met649Val | |
| NM_175721.3:c.2116A>G | NP_783652.1:p.Met706Val | |
| NM_175722.3:c.1597A>G | NP_783653.1:p.Met533Val | |
| XM_011510379.1:c.2116A>G | XP_011508681.1:p.Met706Val | |
| XM_011510380.1:c.2116A>G | XP_011508682.1:p.Met706Val | |
| XM_011510381.1:c.1945A>G | XP_011508683.1:p.Met649Val | |
| XR_922681.1:n.2117A>G | ||
| XM_011510380.3:c.2152A>G | XP_011508682.2:p.Met718Val | |
| XM_024453085.1:c.2152A>G | XP_024308853.1:p.Met718Val | |
| XM_024453086.1:c.2152A>G | XP_024308854.1:p.Met718Val | |
| XM_024453087.1:c.2116A>G | XP_024308855.1:p.Met706Val | |
| XM_024453088.1:c.2116A>G | XP_024308856.1:p.Met706Val | |
| XM_024453089.1:c.2116A>G | XP_024308857.1:p.Met706Val | |
| XM_024453090.1:c.2152A>G | XP_024308858.1:p.Met718Val | |
| XM_024453091.1:c.1981A>G | XP_024308859.1:p.Met661Val | |
| XM_024453092.1:c.1981A>G | XP_024308860.1:p.Met661Val | |
| XM_024453093.1:c.1633A>G | XP_024308861.1:p.Met545Val | |
| NM_001206744.2:c.2116A>G MANE Select | NP_001193673.1:p.Met706Val | |
| NM_000547.6:c.2116A>G | NP_000538.3:p.Met706Val | |
| NM_001206745.2:c.1945A>G | NP_001193674.1:p.Met649Val | |
| NM_175719.4:c.1945A>G | NP_783650.1:p.Met649Val |