Linked Data
dbSNP Id:
rs773383515
ExAC:
17:72759537 A / T
gnomAD v2:
17-72759537-A-T
gnomAD v4:
17-74763398-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74763398A>T , CM000679.2:g.74763398A>T | GRCh38 |
| NC_000017.10:g.72759537A>T , CM000679.1:g.72759537A>T | GRCh37 |
| NC_000017.9:g.70271132A>T | NCBI36 |
| NG_013022.1:g.19775A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262613.10:c.635A>T MANE Select | ENSP00000262613.5:p.His212Leu | |
| ENST00000262613.9:c.635A>T | ENSP00000262613.5:p.His212Leu | |
| ENST00000413388.2:c.167A>T | ENSP00000464982.1:p.His56Leu | |
| ENST00000578958.1:n.369A>T | ||
| ENST00000583369.5:c.442-4749A>T | ENSP00000464321.1:n.442-4749A>T | |
| NM_004252.4:c.635A>T | NP_004243.1:p.His212Leu | |
| XR_002958087.1:n.854A>T | ||
| NM_004252.5:c.635A>T MANE Select | NP_004243.1:p.His212Leu |