Linked Data
gnomAD v4:
19-4816785-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816785G>T , CM000681.2:g.4816785G>T | GRCh38 |
| NC_000019.9:g.4816797G>T , CM000681.1:g.4816797G>T | GRCh37 |
| NC_000019.8:g.4767797G>T | NCBI36 |
| NG_031998.1:g.19958C>A , LRG_358:g.19958C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1593C>A MANE Select | ENSP00000248244.4:p.His531Gln | |
| ENST00000248244.5:c.1593C>A | ENSP00000248244.4:p.His531Gln | |
| ENST00000621756.1:c.1176C>A | ENSP00000479467.1:p.His392Gln | |
| NM_182919.3:c.1593C>A , LRG_358t1:c.1593C>A | NP_891549.1:p.His531Gln | |
| NM_001385678.1:c.1551C>A | NP_001372607.1:p.His517Gln | |
| NM_001385679.1:c.1458C>A | NP_001372608.1:p.His486Gln | |
| NM_001385680.1:c.951C>A | NP_001372609.1:p.His317Gln | |
| NM_182919.4:c.1593C>A MANE Select | NP_891549.1:p.His531Gln |