Linked Data
ClinVar Variation Id:
335120
dbSNP Id:
rs201147199
ExAC:
2:238275578 G / A
gnomAD v2:
2-238275578-G-A
gnomAD v3:
2-237366935-G-A
gnomAD v4:
2-237366935-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237366935G>A , CM000664.2:g.237366935G>A | GRCh38 |
| NC_000002.11:g.238275578G>A , CM000664.1:g.238275578G>A | GRCh37 |
| NC_000002.10:g.237940317G>A | NCBI36 |
| NG_008676.1:g.52273C>T , LRG_473:g.52273C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.4634C>T | ENSP00000315873.4:p.Thr1545Met | |
| ENST00000295550.9:c.5252C>T MANE Select | ENSP00000295550.4:p.Thr1751Met | |
| ENST00000295550.8:c.5252C>T | ENSP00000295550.4:p.Thr1751Met | |
| ENST00000347401.7:c.3431C>T | ENSP00000315609.4:p.Thr1144Met | |
| ENST00000353578.8:c.4634C>T | ENSP00000315873.4:p.Thr1545Met | |
| ENST00000409809.5:c.4634C>T | ENSP00000386844.1:p.Thr1545Met | |
| ENST00000472056.5:c.3431C>T | ENSP00000418285.1:p.Thr1144Met | |
| NM_004369.3:c.5252C>T , LRG_473t1:c.5252C>T | NP_004360.2:p.Thr1751Met | |
| NM_057166.4:c.3431C>T | NP_476507.3:p.Thr1144Met | |
| NM_057167.3:c.4634C>T | NP_476508.2:p.Thr1545Met | |
| XM_005246065.1:c.4652C>T | XP_005246122.1:p.Thr1551Met | |
| XM_005246066.1:c.4031C>T | XP_005246123.1:p.Thr1344Met | |
| XM_006712253.1:c.4751C>T | XP_006712316.1:p.Thr1584Met | |
| XM_011510574.1:c.5249C>T | XP_011508876.1:p.Thr1750Met | |
| XM_011510575.1:c.2846C>T | XP_011508877.1:p.Thr949Met | |
| XM_017003304.1:c.2846C>T | XP_016858793.1:p.Thr949Met | |
| XM_024452684.1:c.4031C>T | XP_024308452.1:p.Thr1344Met | |
| NM_004369.4:c.5252C>T MANE Select | NP_004360.2:p.Thr1751Met | |
| NM_057166.5:c.3431C>T | NP_476507.3:p.Thr1144Met | |
| NM_057167.4:c.4634C>T | NP_476508.2:p.Thr1545Met |