Linked Data
dbSNP Id:
rs969466642
gnomAD v2:
11-68701331-G-T
gnomAD v3:
11-68933863-G-T
gnomAD v4:
11-68933863-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933863G>T , CM000673.2:g.68933863G>T | GRCh38 |
| NC_000011.9:g.68701331G>T , CM000673.1:g.68701331G>T | GRCh37 |
| NC_000011.8:g.68457907G>T | NCBI36 |
| NG_007976.1:g.35013G>T , LRG_250:g.35013G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1487G>T MANE Select | ENSP00000255078.4:p.Cys496Phe | |
| ENST00000674955.1:c.*204G>T | ENSP00000502463.1:n.*204G>T | |
| ENST00000675118.1:c.975G>T | ||
| ENST00000675205.1:n.183+382G>T | ||
| ENST00000675615.1:c.1487G>T | ENSP00000502413.1:p.Cys496Phe | |
| ENST00000675648.1:n.862G>T | ||
| ENST00000675997.1:n.113-601G>T | ||
| ENST00000676173.1:n.2232G>T | ||
| ENST00000676228.1:c.*810G>T | ENSP00000502375.1:n.*810G>T | |
| ENST00000255078.7:c.1487G>T | ENSP00000255078.3:p.Cys496Phe | |
| ENST00000537458.5:n.604G>T | ||
| ENST00000539064.5:n.1246G>T | ||
| ENST00000541229.5:n.182G>T | ||
| ENST00000543739.5:n.604G>T | ||
| NM_002180.2:c.1487G>T , LRG_250t1:c.1487G>T | NP_002171.2:p.Cys496Phe | |
| XM_005273974.2:c.476G>T | XP_005274031.1:p.Cys159Phe | |
| XM_005273975.2:c.359G>T | XP_005274032.1:p.Cys120Phe | |
| XM_011544994.1:c.254G>T | XP_011543296.1:p.Cys85Phe | |
| XR_949903.1:n.1589G>T | ||
| XM_005273975.3:c.359G>T | XP_005274032.1:p.Cys120Phe | |
| XM_017017669.2:c.476G>T | XP_016873158.1:p.Cys159Phe | |
| XM_017017670.2:c.476G>T | XP_016873159.1:p.Cys159Phe | |
| XM_017017671.2:c.1487G>T | XP_016873160.1:p.Cys496Phe | |
| XR_949903.3:n.1585G>T | ||
| NM_002180.3:c.1487G>T MANE Select | NP_002171.2:p.Cys496Phe |