Linked Data
dbSNP Id:
rs746984136
ExAC:
17:1554106 A / T
gnomAD v2:
17-1554106-A-T
gnomAD v3:
17-1650812-A-T
gnomAD v4:
17-1650812-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650812A>T , CM000679.2:g.1650812A>T | GRCh38 |
| NC_000017.10:g.1554106A>T , CM000679.1:g.1554106A>T | GRCh37 |
| NC_000017.9:g.1500856A>T | NCBI36 |
| NG_009118.1:g.39071T>A | |
| NG_033061.1:g.4287T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6818T>A | ENSP00000460849.2:p.Leu2273Gln | |
| ENST00000703537.1:c.2746T>A | ||
| ENST00000703538.1:c.*6721T>A | ENSP00000515361.1:n.*6721T>A | |
| ENST00000703539.1:n.3312T>A | ||
| ENST00000703540.1:c.6851T>A | ENSP00000515362.1:p.Leu2284Gln | |
| ENST00000703541.1:c.6863T>A | ENSP00000515363.1:p.Leu2288Gln | |
| ENST00000304992.11:c.6998T>A MANE Select | ENSP00000304350.6:p.Leu2333Gln | |
| ENST00000304992.10:c.6998T>A | ENSP00000304350.6:p.Leu2333Gln | |
| ENST00000571958.1:c.197T>A | ||
| ENST00000572621.5:c.6998T>A | ENSP00000460348.1:p.Leu2333Gln | |
| NM_006445.3:c.6998T>A | NP_006436.3:p.Leu2333Gln | |
| XM_024450537.1:c.6998T>A | XP_024306305.1:p.Leu2333Gln | |
| NM_006445.4:c.6998T>A MANE Select | NP_006436.3:p.Leu2333Gln |