Linked Data
ClinVar Variation Id:
540519
dbSNP Id:
rs11466723
ExAC:
19:4816587 C / T
gnomAD v2:
19-4816587-C-T
gnomAD v3:
19-4816575-C-T
gnomAD v4:
19-4816575-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816575C>T , CM000681.2:g.4816575C>T | GRCh38 |
| NC_000019.9:g.4816587C>T , CM000681.1:g.4816587C>T | GRCh37 |
| NC_000019.8:g.4767587C>T | NCBI36 |
| NG_031998.1:g.20168G>A , LRG_358:g.20168G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1803G>A MANE Select | ENSP00000248244.4:p.Ala601= | |
| ENST00000248244.5:c.1803G>A | ENSP00000248244.4:p.Ala601= | |
| ENST00000621756.1:c.1386G>A | ENSP00000479467.1:p.Ala462= | |
| NM_182919.3:c.1803G>A , LRG_358t1:c.1803G>A | NP_891549.1:p.Ala601= | |
| NM_001385678.1:c.1761G>A | NP_001372607.1:p.Ala587= | |
| NM_001385679.1:c.1668G>A | NP_001372608.1:p.Ala556= | |
| NM_001385680.1:c.1161G>A | NP_001372609.1:p.Ala387= | |
| NM_182919.4:c.1803G>A MANE Select | NP_891549.1:p.Ala601= |