Linked Data
ClinVar Variation Id:
1095648
ClinVar RCV Id:
RCV001416610
dbSNP Id:
rs201230476
ExAC:
19:4816534 G / T
gnomAD v2:
19-4816534-G-T
gnomAD v3:
19-4816522-G-T
gnomAD v4:
19-4816522-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816522G>T , CM000681.2:g.4816522G>T | GRCh38 |
| NC_000019.9:g.4816534G>T , CM000681.1:g.4816534G>T | GRCh37 |
| NC_000019.8:g.4767534G>T | NCBI36 |
| NG_031998.1:g.20221C>A , LRG_358:g.20221C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1856C>A MANE Select | ENSP00000248244.4:p.Pro619Gln | |
| ENST00000248244.5:c.1856C>A | ENSP00000248244.4:p.Pro619Gln | |
| ENST00000621756.1:c.1439C>A | ENSP00000479467.1:p.Pro480Gln | |
| NM_182919.3:c.1856C>A , LRG_358t1:c.1856C>A | NP_891549.1:p.Pro619Gln | |
| NM_001385678.1:c.1814C>A | NP_001372607.1:p.Pro605Gln | |
| NM_001385679.1:c.1721C>A | NP_001372608.1:p.Pro574Gln | |
| NM_001385680.1:c.1214C>A | NP_001372609.1:p.Pro405Gln | |
| NM_182919.4:c.1856C>A MANE Select | NP_891549.1:p.Pro619Gln |