Linked Data
ClinVar Variation Id:
284791
dbSNP Id:
rs114806654
ExAC:
2:238249727 G / A
gnomAD v2:
2-238249727-G-A
gnomAD v3:
2-237341084-G-A
gnomAD v4:
2-237341084-G-A
COSMIC:
COSM3051267
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237341084G>A , CM000664.2:g.237341084G>A | GRCh38 |
| NC_000002.11:g.238249727G>A , CM000664.1:g.238249727G>A | GRCh37 |
| NC_000002.10:g.237914466G>A | NCBI36 |
| NG_008676.1:g.78124C>T , LRG_473:g.78124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.477C>T | ||
| ENST00000353578.9:c.7214C>T | ENSP00000315873.4:p.Ala2405Val | |
| ENST00000684508.1:n.99C>T | ||
| ENST00000295550.9:c.7832C>T MANE Select | ENSP00000295550.4:p.Ala2611Val | |
| ENST00000295550.8:c.7832C>T | ENSP00000295550.4:p.Ala2611Val | |
| ENST00000347401.7:c.6008C>T | ENSP00000315609.4:p.Ala2003Val | |
| ENST00000353578.8:c.7214C>T | ENSP00000315873.4:p.Ala2405Val | |
| ENST00000409809.5:c.7214C>T | ENSP00000386844.1:p.Ala2405Val | |
| ENST00000472056.5:c.6011C>T | ENSP00000418285.1:p.Ala2004Val | |
| ENST00000491769.1:n.4274C>T | ||
| NM_004369.3:c.7832C>T , LRG_473t1:c.7832C>T | NP_004360.2:p.Ala2611Val | |
| NM_057166.4:c.6011C>T | NP_476507.3:p.Ala2004Val | |
| NM_057167.3:c.7214C>T | NP_476508.2:p.Ala2405Val | |
| XM_005246065.1:c.7232C>T | XP_005246122.1:p.Ala2411Val | |
| XM_005246066.1:c.6611C>T | XP_005246123.1:p.Ala2204Val | |
| XM_006712253.1:c.7331C>T | XP_006712316.1:p.Ala2444Val | |
| XM_011510574.1:c.7829C>T | XP_011508876.1:p.Ala2610Val | |
| XM_011510575.1:c.5426C>T | XP_011508877.1:p.Ala1809Val | |
| XM_017003304.1:c.5426C>T | XP_016858793.1:p.Ala1809Val | |
| XM_024452684.1:c.6611C>T | XP_024308452.1:p.Ala2204Val | |
| NM_004369.4:c.7832C>T MANE Select | NP_004360.2:p.Ala2611Val | |
| NM_057166.5:c.6011C>T | NP_476507.3:p.Ala2004Val | |
| NM_057167.4:c.7214C>T | NP_476508.2:p.Ala2405Val |