Linked Data
dbSNP Id:
rs377680312
ExAC:
11:68701325 C / T
gnomAD v2:
11-68701325-C-T
gnomAD v4:
11-68933857-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933857C>T , CM000673.2:g.68933857C>T | GRCh38 |
| NC_000011.9:g.68701325C>T , CM000673.1:g.68701325C>T | GRCh37 |
| NC_000011.8:g.68457901C>T | NCBI36 |
| NG_007976.1:g.35007C>T , LRG_250:g.35007C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1481C>T MANE Select | ENSP00000255078.4:p.Ala494Val | |
| ENST00000674955.1:c.*198C>T | ENSP00000502463.1:n.*198C>T | |
| ENST00000675118.1:c.969C>T | ||
| ENST00000675205.1:n.183+376C>T | ||
| ENST00000675615.1:c.1481C>T | ENSP00000502413.1:p.Ala494Val | |
| ENST00000675648.1:n.856C>T | ||
| ENST00000675997.1:n.113-607C>T | ||
| ENST00000676173.1:n.2226C>T | ||
| ENST00000676228.1:c.*804C>T | ENSP00000502375.1:n.*804C>T | |
| ENST00000255078.7:c.1481C>T | ENSP00000255078.3:p.Ala494Val | |
| ENST00000537458.5:n.598C>T | ||
| ENST00000539064.5:n.1240C>T | ||
| ENST00000541229.5:n.176C>T | ||
| ENST00000543739.5:n.598C>T | ||
| NM_002180.2:c.1481C>T , LRG_250t1:c.1481C>T | NP_002171.2:p.Ala494Val | |
| XM_005273974.2:c.470C>T | XP_005274031.1:p.Ala157Val | |
| XM_005273975.2:c.353C>T | XP_005274032.1:p.Ala118Val | |
| XM_011544994.1:c.248C>T | XP_011543296.1:p.Ala83Val | |
| XR_949903.1:n.1583C>T | ||
| XM_005273975.3:c.353C>T | XP_005274032.1:p.Ala118Val | |
| XM_017017669.2:c.470C>T | XP_016873158.1:p.Ala157Val | |
| XM_017017670.2:c.470C>T | XP_016873159.1:p.Ala157Val | |
| XM_017017671.2:c.1481C>T | XP_016873160.1:p.Ala494Val | |
| XR_949903.3:n.1579C>T | ||
| NM_002180.3:c.1481C>T MANE Select | NP_002171.2:p.Ala494Val |