Linked Data
ClinVar Variation Id:
356114
ClinVar RCV Id:
RCV000609534
dbSNP Id:
rs2842934
ExAC:
6:18139214 G / A
gnomAD v2:
6-18139214-G-A
gnomAD v3:
6-18138983-G-A
gnomAD v4:
6-18138983-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18138983G>A , CM000668.2:g.18138983G>A | GRCh38 |
| NC_000006.11:g.18139214G>A , CM000668.1:g.18139214G>A | GRCh37 |
| NC_000006.10:g.18247193G>A | NCBI36 |
| NG_012137.3:g.21161C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309983.5:c.474C>T MANE Select | ENSP00000312304.4:p.Ile158= | |
| ENST00000309983.4:c.474C>T | ENSP00000312304.4:p.Ile158= | |
| XM_011514839.1:c.474C>T | XP_011513141.1:p.Ile158= | |
| XM_011514840.1:c.405C>T | XP_011513142.1:p.Ile135= | |
| NM_000367.5:c.474C>T MANE Select | NP_000358.1:p.Ile158= |