Linked Data
dbSNP Id:
rs771513945
ExAC:
17:62018411 T / A
gnomAD v2:
17-62018411-T-A
gnomAD v4:
17-63941051-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941051T>A , CM000679.2:g.63941051T>A | GRCh38 |
| NC_000017.10:g.62018411T>A , CM000679.1:g.62018411T>A | GRCh37 |
| NC_000017.9:g.59372143T>A | NCBI36 |
| NG_011699.1:g.36868A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.5231A>T MANE Select | ENSP00000396320.1:p.Gln1744Leu | |
| ENST00000578147.5:c.5231A>T | ENSP00000463963.1:p.Gln1744Leu | |
| NM_000334.4:c.5231A>T MANE Select | NP_000325.4:p.Gln1744Leu | |
| XM_005257566.3:c.5231A>T | XP_005257623.1:p.Gln1744Leu |