Linked Data
ClinVar Variation Id:
551555
ClinVar RCV Id:
RCV000666644
dbSNP Id:
rs764974157
ExAC:
12:103234208 G / T
gnomAD v2:
12-103234208-G-T
gnomAD v3:
12-102840430-G-T
gnomAD v4:
12-102840430-G-T
ERepo:
CA6748701/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840430G>T , CM000674.2:g.102840430G>T | GRCh38 |
| NC_000012.11:g.103234208G>T , CM000674.1:g.103234208G>T | GRCh37 |
| NC_000012.10:g.101758338G>T | NCBI36 |
| NG_008690.1:g.82173C>A | |
| NG_008690.2:g.122981C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1285C>A MANE Select | ENSP00000448059.1:p.Gln429Lys | |
| ENST00000307000.7:c.1270C>A | ENSP00000303500.2:p.Gln424Lys | |
| ENST00000551114.2:n.947C>A | ||
| ENST00000553106.5:c.1285C>A | ENSP00000448059.1:p.Gln429Lys | |
| ENST00000635477.1:c.389C>A | ||
| ENST00000635528.1:n.800C>A | ||
| NM_000277.1:c.1285C>A | NP_000268.1:p.Gln429Lys | |
| XM_011538422.1:c.1228C>A | XP_011536724.1:p.Gln410Lys | |
| NM_000277.2:c.1285C>A | NP_000268.1:p.Gln429Lys | |
| NM_001354304.1:c.1285C>A | NP_001341233.1:p.Gln429Lys | |
| NM_000277.3:c.1285C>A MANE Select | NP_000268.1:p.Gln429Lys | |
| NM_001354304.2:c.1285C>A | NP_001341233.1:p.Gln429Lys |