Linked Data
ClinVar Variation Id:
245629
dbSNP Id:
rs879253887
gnomAD v2:
11-68702010-C-T
gnomAD v4:
11-68934542-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68934542C>T , CM000673.2:g.68934542C>T | GRCh38 |
| NC_000011.9:g.68702010C>T , CM000673.1:g.68702010C>T | GRCh37 |
| NC_000011.8:g.68458586C>T | NCBI36 |
| NG_007976.1:g.35692C>T , LRG_250:g.35692C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1616C>T MANE Select | ENSP00000255078.4:p.Ser539Leu | |
| ENST00000674672.1:n.79C>T | ||
| ENST00000674955.1:c.*333C>T | ENSP00000502463.1:n.*333C>T | |
| ENST00000675118.1:c.1104C>T | ||
| ENST00000675205.1:n.262C>T | ||
| ENST00000675615.1:c.1616C>T | ENSP00000502413.1:p.Ser539Leu | |
| ENST00000675648.1:n.991C>T | ||
| ENST00000675964.1:n.79C>T | ||
| ENST00000675997.1:n.191C>T | ||
| ENST00000676173.1:n.2361C>T | ||
| ENST00000676182.1:c.79C>T | ||
| ENST00000676228.1:c.*939C>T | ENSP00000502375.1:n.*939C>T | |
| ENST00000255078.7:c.1616C>T | ENSP00000255078.3:p.Ser539Leu | |
| ENST00000539064.5:n.1375C>T | ||
| ENST00000541229.5:n.311C>T | ||
| ENST00000543739.5:n.733C>T | ||
| ENST00000545475.1:n.212C>T | ||
| NM_002180.2:c.1616C>T , LRG_250t1:c.1616C>T | NP_002171.2:p.Ser539Leu | |
| XM_005273974.2:c.605C>T | XP_005274031.1:p.Ser202Leu | |
| XM_005273975.2:c.488C>T | XP_005274032.1:p.Ser163Leu | |
| XM_011544994.1:c.383C>T | XP_011543296.1:p.Ser128Leu | |
| XR_949903.1:n.1718C>T | ||
| XM_005273975.3:c.488C>T | XP_005274032.1:p.Ser163Leu | |
| XM_017017669.2:c.605C>T | XP_016873158.1:p.Ser202Leu | |
| XM_017017670.2:c.605C>T | XP_016873159.1:p.Ser202Leu | |
| XM_017017671.2:c.1616C>T | XP_016873160.1:p.Ser539Leu | |
| XR_949903.3:n.1714C>T | ||
| NM_002180.3:c.1616C>T MANE Select | NP_002171.2:p.Ser539Leu |