Linked Data
ClinVar Variation Id:
2075769
ClinVar RCV Id:
RCV002982587
gnomAD v4:
19-4816800-G-A
MyVariant Identifiers:
chr19:g.4816812G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816800G>A , CM000681.2:g.4816800G>A | GRCh38 |
| NC_000019.9:g.4816812G>A , CM000681.1:g.4816812G>A | GRCh37 |
| NC_000019.8:g.4767812G>A | NCBI36 |
| NG_031998.1:g.19943C>T , LRG_358:g.19943C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1578C>T MANE Select | ENSP00000248244.4:p.Asn526= | |
| ENST00000248244.5:c.1578C>T | ENSP00000248244.4:p.Asn526= | |
| ENST00000621756.1:c.1161C>T | ENSP00000479467.1:p.Asn387= | |
| NM_182919.3:c.1578C>T , LRG_358t1:c.1578C>T | NP_891549.1:p.Asn526= | |
| NM_001385678.1:c.1536C>T | NP_001372607.1:p.Asn512= | |
| NM_001385679.1:c.1443C>T | NP_001372608.1:p.Asn481= | |
| NM_001385680.1:c.936C>T | NP_001372609.1:p.Asn312= | |
| NM_182919.4:c.1578C>T MANE Select | NP_891549.1:p.Asn526= |