Linked Data
ClinVar Variation Id:
452912
dbSNP Id:
rs201722265
gnomAD v2:
2-238277602-C-T
gnomAD v3:
2-237368959-C-T
gnomAD v4:
2-237368959-C-T
COSMIC:
COSM3380095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237368959C>T , CM000664.2:g.237368959C>T | GRCh38 |
| NC_000002.11:g.238277602C>T , CM000664.1:g.238277602C>T | GRCh37 |
| NC_000002.10:g.237942341C>T | NCBI36 |
| NG_008676.1:g.50249G>A , LRG_473:g.50249G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.3886G>A | ENSP00000315873.4:p.Ala1296Thr | |
| ENST00000684597.1:c.117-283G>A | ||
| ENST00000295550.9:c.4504G>A MANE Select | ENSP00000295550.4:p.Ala1502Thr | |
| ENST00000295550.8:c.4504G>A | ENSP00000295550.4:p.Ala1502Thr | |
| ENST00000347401.7:c.2683G>A | ENSP00000315609.4:p.Ala895Thr | |
| ENST00000353578.8:c.3886G>A | ENSP00000315873.4:p.Ala1296Thr | |
| ENST00000409809.5:c.3886G>A | ENSP00000386844.1:p.Ala1296Thr | |
| ENST00000472056.5:c.2683G>A | ENSP00000418285.1:p.Ala895Thr | |
| NM_004369.3:c.4504G>A , LRG_473t1:c.4504G>A | NP_004360.2:p.Ala1502Thr | |
| NM_057166.4:c.2683G>A | NP_476507.3:p.Ala895Thr | |
| NM_057167.3:c.3886G>A | NP_476508.2:p.Ala1296Thr | |
| XM_005246065.1:c.3904G>A | XP_005246122.1:p.Ala1302Thr | |
| XM_005246066.1:c.3283G>A | XP_005246123.1:p.Ala1095Thr | |
| XM_006712253.1:c.4286-283G>A | XP_006712316.1:n.4286-283G>A | |
| XM_011510574.1:c.4501G>A | XP_011508876.1:p.Ala1501Thr | |
| XM_011510575.1:c.2098G>A | XP_011508877.1:p.Ala700Thr | |
| XM_017003304.1:c.2098G>A | XP_016858793.1:p.Ala700Thr | |
| XM_024452684.1:c.3283G>A | XP_024308452.1:p.Ala1095Thr | |
| NM_004369.4:c.4504G>A MANE Select | NP_004360.2:p.Ala1502Thr | |
| NM_057166.5:c.2683G>A | NP_476507.3:p.Ala895Thr | |
| NM_057167.4:c.3886G>A | NP_476508.2:p.Ala1296Thr |