Linked Data
ClinVar Variation Id:
94994
dbSNP Id:
rs143631346
ExAC:
2:238250788 A / G
gnomAD v2:
2-238250788-A-G
gnomAD v3:
2-237342145-A-G
gnomAD v4:
2-237342145-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237342145A>G , CM000664.2:g.237342145A>G | GRCh38 |
| NC_000002.11:g.238250788A>G , CM000664.1:g.238250788A>G | GRCh37 |
| NC_000002.10:g.237915527A>G | NCBI36 |
| NG_008676.1:g.77063T>C , LRG_473:g.77063T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.330T>C | ||
| ENST00000353578.9:c.7067T>C | ENSP00000315873.4:p.Val2356Ala | |
| ENST00000295550.9:c.7685T>C MANE Select | ENSP00000295550.4:p.Val2562Ala | |
| ENST00000295550.8:c.7685T>C | ENSP00000295550.4:p.Val2562Ala | |
| ENST00000347401.7:c.5861T>C | ENSP00000315609.4:p.Val1954Ala | |
| ENST00000353578.8:c.7067T>C | ENSP00000315873.4:p.Val2356Ala | |
| ENST00000409809.5:c.7067T>C | ENSP00000386844.1:p.Val2356Ala | |
| ENST00000472056.5:c.5864T>C | ENSP00000418285.1:p.Val1955Ala | |
| ENST00000491769.1:n.4127T>C | ||
| NM_004369.3:c.7685T>C , LRG_473t1:c.7685T>C | NP_004360.2:p.Val2562Ala | |
| NM_057166.4:c.5864T>C | NP_476507.3:p.Val1955Ala | |
| NM_057167.3:c.7067T>C | NP_476508.2:p.Val2356Ala | |
| XM_005246065.1:c.7085T>C | XP_005246122.1:p.Val2362Ala | |
| XM_005246066.1:c.6464T>C | XP_005246123.1:p.Val2155Ala | |
| XM_006712253.1:c.7184T>C | XP_006712316.1:p.Val2395Ala | |
| XM_011510574.1:c.7682T>C | XP_011508876.1:p.Val2561Ala | |
| XM_011510575.1:c.5279T>C | XP_011508877.1:p.Val1760Ala | |
| XM_017003304.1:c.5279T>C | XP_016858793.1:p.Val1760Ala | |
| XM_024452684.1:c.6464T>C | XP_024308452.1:p.Val2155Ala | |
| NM_004369.4:c.7685T>C MANE Select | NP_004360.2:p.Val2562Ala | |
| NM_057166.5:c.5864T>C | NP_476507.3:p.Val1955Ala | |
| NM_057167.4:c.7067T>C | NP_476508.2:p.Val2356Ala |