Linked Data
ClinVar Variation Id:
245837
dbSNP Id:
rs370414354
ExAC:
11:68700826 C / T
gnomAD v2:
11-68700826-C-T
gnomAD v3:
11-68933358-C-T
gnomAD v4:
11-68933358-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933358C>T , CM000673.2:g.68933358C>T | GRCh38 |
| NC_000011.9:g.68700826C>T , CM000673.1:g.68700826C>T | GRCh37 |
| NC_000011.8:g.68457402C>T | NCBI36 |
| NG_007976.1:g.34508C>T , LRG_250:g.34508C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1295C>T MANE Select | ENSP00000255078.4:p.Ala432Val | |
| ENST00000536803.2:n.206C>T | ||
| ENST00000674955.1:c.*12C>T | ENSP00000502463.1:n.*12C>T | |
| ENST00000675118.1:c.783C>T | ||
| ENST00000675205.1:n.60C>T | ||
| ENST00000675310.1:n.432C>T | ||
| ENST00000675615.1:c.1295C>T | ENSP00000502413.1:p.Ala432Val | |
| ENST00000675648.1:n.670C>T | ||
| ENST00000675997.1:n.113-1106C>T | ||
| ENST00000676149.1:n.369C>T | ||
| ENST00000676173.1:n.2040C>T | ||
| ENST00000676228.1:c.*618C>T | ENSP00000502375.1:n.*618C>T | |
| ENST00000255078.7:c.1295C>T | ENSP00000255078.3:p.Ala432Val | |
| ENST00000536803.1:n.404C>T | ||
| ENST00000537458.5:n.412C>T | ||
| ENST00000539064.5:n.1054C>T | ||
| ENST00000543739.5:n.412C>T | ||
| ENST00000568742.1:n.517C>T | ||
| NM_002180.2:c.1295C>T , LRG_250t1:c.1295C>T | NP_002171.2:p.Ala432Val | |
| XM_005273974.2:c.284C>T | XP_005274031.1:p.Ala95Val | |
| XM_005273975.2:c.167C>T | XP_005274032.1:p.Ala56Val | |
| XM_011544994.1:c.62C>T | XP_011543296.1:p.Ala21Val | |
| XR_247198.1:n.2098C>T | ||
| XR_949903.1:n.1397C>T | ||
| XM_005273975.3:c.167C>T | XP_005274032.1:p.Ala56Val | |
| XM_017017669.2:c.284C>T | XP_016873158.1:p.Ala95Val | |
| XM_017017670.2:c.284C>T | XP_016873159.1:p.Ala95Val | |
| XM_017017671.2:c.1295C>T | XP_016873160.1:p.Ala432Val | |
| XR_949903.3:n.1393C>T | ||
| NM_002180.3:c.1295C>T MANE Select | NP_002171.2:p.Ala432Val |