Linked Data
ClinVar Variation Id:
291169
dbSNP Id:
rs779603740
ExAC:
2:238277681 A / G
gnomAD v2:
2-238277681-A-G
gnomAD v4:
2-237369038-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237369038A>G , CM000664.2:g.237369038A>G | GRCh38 |
| NC_000002.11:g.238277681A>G , CM000664.1:g.238277681A>G | GRCh37 |
| NC_000002.10:g.237942420A>G | NCBI36 |
| NG_008676.1:g.50170T>C , LRG_473:g.50170T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.3807T>C | ENSP00000315873.4:p.Val1269= | |
| ENST00000684597.1:c.117-362T>C | ||
| ENST00000295550.9:c.4425T>C MANE Select | ENSP00000295550.4:p.Val1475= | |
| ENST00000295550.8:c.4425T>C | ENSP00000295550.4:p.Val1475= | |
| ENST00000347401.7:c.2604T>C | ENSP00000315609.4:p.Val868= | |
| ENST00000353578.8:c.3807T>C | ENSP00000315873.4:p.Val1269= | |
| ENST00000409809.5:c.3807T>C | ENSP00000386844.1:p.Val1269= | |
| ENST00000472056.5:c.2604T>C | ENSP00000418285.1:p.Val868= | |
| NM_004369.3:c.4425T>C , LRG_473t1:c.4425T>C | NP_004360.2:p.Val1475= | |
| NM_057166.4:c.2604T>C | NP_476507.3:p.Val868= | |
| NM_057167.3:c.3807T>C | NP_476508.2:p.Val1269= | |
| XM_005246065.1:c.3825T>C | XP_005246122.1:p.Val1275= | |
| XM_005246066.1:c.3204T>C | XP_005246123.1:p.Val1068= | |
| XM_006712253.1:c.4286-362T>C | XP_006712316.1:n.4286-362T>C | |
| XM_011510574.1:c.4422T>C | XP_011508876.1:p.Val1474= | |
| XM_011510575.1:c.2019T>C | XP_011508877.1:p.Val673= | |
| XM_017003304.1:c.2019T>C | XP_016858793.1:p.Val673= | |
| XM_024452684.1:c.3204T>C | XP_024308452.1:p.Val1068= | |
| NM_004369.4:c.4425T>C MANE Select | NP_004360.2:p.Val1475= | |
| NM_057166.5:c.2604T>C | NP_476507.3:p.Val868= | |
| NM_057167.4:c.3807T>C | NP_476508.2:p.Val1269= |