Linked Data
dbSNP Id:
rs753667647
ExAC:
19:3595783 C / T
gnomAD v2:
19-3595783-C-T
gnomAD v3:
19-3595785-C-T
gnomAD v4:
19-3595785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595785C>T , CM000681.2:g.3595785C>T | GRCh38 |
| NC_000019.9:g.3595783C>T , CM000681.1:g.3595783C>T | GRCh37 |
| NC_000019.8:g.3546783C>T | NCBI36 |
| NG_013363.1:g.16049G>A , LRG_578:g.16049G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.935G>A MANE Select | ENSP00000364336.4:p.Arg312His | |
| ENST00000375190.8:c.935G>A | ENSP00000364336.3:p.Arg312His | |
| ENST00000411851.3:c.935G>A | ENSP00000393333.2:p.Arg312His | |
| ENST00000589966.1:c.546G>A | ENSP00000468145.1:p.Pro182= | |
| NM_001060.5:c.935G>A , LRG_578t1:c.935G>A | NP_001051.1:p.Arg312His | |
| NM_201636.2:c.935G>A | NP_963998.2:p.Arg312His | |
| XM_011528214.1:c.935G>A | XP_011526516.1:p.Arg312His | |
| XM_011528214.2:c.935G>A | XP_011526516.1:p.Arg312His | |
| NM_001060.6:c.935G>A MANE Select | NP_001051.1:p.Arg312His | |
| NM_201636.3:c.935G>A | NP_963998.2:p.Arg312His |