Linked Data
dbSNP Id:
rs771986976
ExAC:
11:20649526 G / T
gnomAD v2:
11-20649526-G-T
gnomAD v4:
11-20627980-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20627980G>T , CM000673.2:g.20627980G>T | GRCh38 |
| NC_000011.9:g.20649526G>T , CM000673.1:g.20649526G>T | GRCh37 |
| NC_000011.8:g.20606102G>T | NCBI36 |
| NG_013086.1:g.33581G>T | |
| NG_013086.2:g.33581G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.1396G>T MANE Select | ENSP00000434364.2:p.Val466Leu | |
| ENST00000298923.11:c.*693G>T | ENSP00000298923.7:n.*693G>T | |
| ENST00000525748.5:c.1396G>T | ENSP00000434364.1:p.Val466Leu | |
| NM_004211.3:c.1396G>T | NP_004202.2:p.Val466Leu | |
| XM_005253225.1:c.694G>T | XP_005253282.1:p.Val232Leu | |
| XM_011520473.1:c.1396G>T | XP_011518775.1:p.Val466Leu | |
| NM_001318369.1:c.694G>T | NP_001305298.1:p.Val232Leu | |
| NM_004211.4:c.1396G>T | NP_004202.3:p.Val466Leu | |
| XM_017018544.2:c.520G>T | XP_016874033.1:p.Val174Leu | |
| XM_017018545.2:c.355G>T | XP_016874034.1:p.Val119Leu | |
| NM_001318369.2:c.694G>T | NP_001305298.1:p.Val232Leu | |
| NM_004211.5:c.1396G>T MANE Select | NP_004202.4:p.Val466Leu |