Linked Data
dbSNP Id:
rs1195044110
gnomAD v2:
2-238245029-A-G
gnomAD v3:
2-237336386-A-G
gnomAD v4:
2-237336386-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336386A>G , CM000664.2:g.237336386A>G | GRCh38 |
| NC_000002.11:g.238245029A>G , CM000664.1:g.238245029A>G | GRCh37 |
| NC_000002.10:g.237909768A>G | NCBI36 |
| NG_008676.1:g.82822T>C , LRG_473:g.82822T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1359T>C | ||
| ENST00000353578.9:c.8096T>C | ENSP00000315873.4:p.Val2699Ala | |
| ENST00000682957.1:c.841T>C | ||
| ENST00000684508.1:n.981T>C | ||
| ENST00000295550.9:c.8714T>C MANE Select | ENSP00000295550.4:p.Val2905Ala | |
| ENST00000295550.8:c.8714T>C | ENSP00000295550.4:p.Val2905Ala | |
| ENST00000347401.7:c.6890T>C | ENSP00000315609.4:p.Val2297Ala | |
| ENST00000353578.8:c.8096T>C | ENSP00000315873.4:p.Val2699Ala | |
| ENST00000409809.5:c.8096T>C | ENSP00000386844.1:p.Val2699Ala | |
| ENST00000472056.5:c.6893T>C | ENSP00000418285.1:p.Val2298Ala | |
| ENST00000491769.1:n.5156T>C | ||
| NM_004369.3:c.8714T>C , LRG_473t1:c.8714T>C | NP_004360.2:p.Val2905Ala | |
| NM_057166.4:c.6893T>C | NP_476507.3:p.Val2298Ala | |
| NM_057167.3:c.8096T>C | NP_476508.2:p.Val2699Ala | |
| XM_005246065.1:c.8114T>C | XP_005246122.1:p.Val2705Ala | |
| XM_005246066.1:c.7493T>C | XP_005246123.1:p.Val2498Ala | |
| XM_006712253.1:c.8213T>C | XP_006712316.1:p.Val2738Ala | |
| XM_011510574.1:c.8711T>C | XP_011508876.1:p.Val2904Ala | |
| XM_011510575.1:c.6308T>C | XP_011508877.1:p.Val2103Ala | |
| XM_017003304.1:c.6308T>C | XP_016858793.1:p.Val2103Ala | |
| XM_024452684.1:c.7493T>C | XP_024308452.1:p.Val2498Ala | |
| NM_004369.4:c.8714T>C MANE Select | NP_004360.2:p.Val2905Ala | |
| NM_057166.5:c.6893T>C | NP_476507.3:p.Val2298Ala | |
| NM_057167.4:c.8096T>C | NP_476508.2:p.Val2699Ala |