Linked Data
ClinVar Variation Id:
433162
dbSNP Id:
rs754465226
ExAC:
11:68701367 C / T
gnomAD v2:
11-68701367-C-T
gnomAD v4:
11-68933899-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933899C>T , CM000673.2:g.68933899C>T | GRCh38 |
| NC_000011.9:g.68701367C>T , CM000673.1:g.68701367C>T | GRCh37 |
| NC_000011.8:g.68457943C>T | NCBI36 |
| NG_007976.1:g.35049C>T , LRG_250:g.35049C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1523C>T MANE Select | ENSP00000255078.4:p.Ser508Leu | |
| ENST00000674955.1:c.*240C>T | ENSP00000502463.1:n.*240C>T | |
| ENST00000675118.1:c.1011C>T | ||
| ENST00000675205.1:n.183+418C>T | ||
| ENST00000675615.1:c.1523C>T | ENSP00000502413.1:p.Ser508Leu | |
| ENST00000675648.1:n.898C>T | ||
| ENST00000675997.1:n.113-565C>T | ||
| ENST00000676173.1:n.2268C>T | ||
| ENST00000676228.1:c.*846C>T | ENSP00000502375.1:n.*846C>T | |
| ENST00000255078.7:c.1523C>T | ENSP00000255078.3:p.Ser508Leu | |
| ENST00000537458.5:n.640C>T | ||
| ENST00000539064.5:n.1282C>T | ||
| ENST00000541229.5:n.218C>T | ||
| ENST00000543739.5:n.640C>T | ||
| NM_002180.2:c.1523C>T , LRG_250t1:c.1523C>T | NP_002171.2:p.Ser508Leu | |
| XM_005273974.2:c.512C>T | XP_005274031.1:p.Ser171Leu | |
| XM_005273975.2:c.395C>T | XP_005274032.1:p.Ser132Leu | |
| XM_011544994.1:c.290C>T | XP_011543296.1:p.Ser97Leu | |
| XR_949903.1:n.1625C>T | ||
| XM_005273975.3:c.395C>T | XP_005274032.1:p.Ser132Leu | |
| XM_017017669.2:c.512C>T | XP_016873158.1:p.Ser171Leu | |
| XM_017017670.2:c.512C>T | XP_016873159.1:p.Ser171Leu | |
| XM_017017671.2:c.1523C>T | XP_016873160.1:p.Ser508Leu | |
| XR_949903.3:n.1621C>T | ||
| NM_002180.3:c.1523C>T MANE Select | NP_002171.2:p.Ser508Leu |