Linked Data
ClinVar Variation Id:
1308341
ClinVar RCV Id:
RCV001763253
dbSNP Id:
rs782423189
ExAC:
3:53262303 C / T
gnomAD v2:
3-53262303-C-T
gnomAD v3:
3-53228287-C-T
gnomAD v4:
3-53228287-C-T
COSMIC:
COSM4584558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53228287C>T , CM000665.2:g.53228287C>T | GRCh38 |
| NC_000003.11:g.53262303C>T , CM000665.1:g.53262303C>T | GRCh37 |
| NC_000003.10:g.53237343C>T | NCBI36 |
| NG_027815.1:g.32828G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462138.6:c.1468G>A MANE Select | ENSP00000417773.1:p.Gly490Arg | |
| ENST00000296289.10:c.970G>A | ENSP00000296289.7:p.Gly324Arg | |
| ENST00000423516.5:c.1492G>A | ENSP00000391481.1:p.Gly498Arg | |
| ENST00000423525.6:c.1468G>A | ENSP00000405455.2:p.Gly490Arg | |
| ENST00000450814.6:c.*896G>A | ENSP00000413503.2:n.*896G>A | |
| ENST00000460343.5:n.4777G>A | ||
| ENST00000461139.5:n.1469G>A | ||
| ENST00000462138.5:c.1468G>A | ENSP00000417773.1:p.Gly490Arg | |
| ENST00000469678.1:c.*470G>A | ENSP00000418340.1:n.*470G>A | |
| NM_001064.3:c.1468G>A | NP_001055.1:p.Gly490Arg | |
| NM_001135055.2:c.1468G>A | NP_001128527.1:p.Gly490Arg | |
| NM_001258028.1:c.1492G>A | NP_001244957.1:p.Gly498Arg | |
| NR_047580.1:n.1530G>A | ||
| XM_011534054.1:c.1492G>A | XP_011532356.1:p.Gly498Arg | |
| XM_011534055.1:c.970G>A | XP_011532357.1:p.Gly324Arg | |
| XM_011534055.2:c.970G>A | XP_011532357.1:p.Gly324Arg | |
| NM_001064.4:c.1468G>A MANE Select | NP_001055.1:p.Gly490Arg | |
| NM_001135055.3:c.1468G>A | NP_001128527.1:p.Gly490Arg | |
| NM_001258028.2:c.1492G>A | NP_001244957.1:p.Gly498Arg | |
| NR_047580.2:n.1438G>A |