Linked Data
ClinVar Variation Id:
288504
dbSNP Id:
rs751532649
ExAC:
2:238244999 G / A
gnomAD v2:
2-238244999-G-A
gnomAD v3:
2-237336356-G-A
gnomAD v4:
2-237336356-G-A
COSMIC:
COSM3391590
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336356G>A , CM000664.2:g.237336356G>A | GRCh38 |
| NC_000002.11:g.238244999G>A , CM000664.1:g.238244999G>A | GRCh37 |
| NC_000002.10:g.237909738G>A | NCBI36 |
| NG_008676.1:g.82852C>T , LRG_473:g.82852C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347401.8:c.1389C>T | ||
| ENST00000353578.9:c.8126C>T | ENSP00000315873.4:p.Ala2709Val | |
| ENST00000682957.1:c.871C>T | ||
| ENST00000684508.1:n.1011C>T | ||
| ENST00000295550.9:c.8744C>T MANE Select | ENSP00000295550.4:p.Ala2915Val | |
| ENST00000295550.8:c.8744C>T | ENSP00000295550.4:p.Ala2915Val | |
| ENST00000347401.7:c.6920C>T | ENSP00000315609.4:p.Ala2307Val | |
| ENST00000353578.8:c.8126C>T | ENSP00000315873.4:p.Ala2709Val | |
| ENST00000409809.5:c.8126C>T | ENSP00000386844.1:p.Ala2709Val | |
| ENST00000472056.5:c.6923C>T | ENSP00000418285.1:p.Ala2308Val | |
| ENST00000491769.1:n.5186C>T | ||
| NM_004369.3:c.8744C>T , LRG_473t1:c.8744C>T | NP_004360.2:p.Ala2915Val | |
| NM_057166.4:c.6923C>T | NP_476507.3:p.Ala2308Val | |
| NM_057167.3:c.8126C>T | NP_476508.2:p.Ala2709Val | |
| XM_005246065.1:c.8144C>T | XP_005246122.1:p.Ala2715Val | |
| XM_005246066.1:c.7523C>T | XP_005246123.1:p.Ala2508Val | |
| XM_006712253.1:c.8243C>T | XP_006712316.1:p.Ala2748Val | |
| XM_011510574.1:c.8741C>T | XP_011508876.1:p.Ala2914Val | |
| XM_011510575.1:c.6338C>T | XP_011508877.1:p.Ala2113Val | |
| XM_017003304.1:c.6338C>T | XP_016858793.1:p.Ala2113Val | |
| XM_024452684.1:c.7523C>T | XP_024308452.1:p.Ala2508Val | |
| NM_004369.4:c.8744C>T MANE Select | NP_004360.2:p.Ala2915Val | |
| NM_057166.5:c.6923C>T | NP_476507.3:p.Ala2308Val | |
| NM_057167.4:c.8126C>T | NP_476508.2:p.Ala2709Val |