Linked Data
ClinVar Variation Id:
1000596
dbSNP Id:
rs372343607
ExAC:
2:219678785 G / T
gnomAD v2:
2-219678785-G-T
gnomAD v3:
2-218814062-G-T
gnomAD v4:
2-218814062-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814062G>T , CM000664.2:g.218814062G>T | GRCh38 |
| NC_000002.11:g.219678785G>T , CM000664.1:g.219678785G>T | GRCh37 |
| NC_000002.10:g.219387029G>T | NCBI36 |
| NG_007959.1:g.37314G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1059G>T MANE Select | ENSP00000258415.4:p.Lys353Asn | |
| ENST00000258415.8:c.1059G>T | ENSP00000258415.4:p.Lys353Asn | |
| ENST00000445971.1:c.*520G>T | ENSP00000404945.1:n.*520G>T | |
| ENST00000466602.1:n.1181G>T | ||
| ENST00000494263.5:n.1493G>T | ||
| NM_000784.3:c.1059G>T | NP_000775.1:p.Lys353Asn | |
| XM_017003488.2:c.639G>T | XP_016858977.1:p.Lys213Asn | |
| NM_000784.4:c.1059G>T MANE Select | NP_000775.1:p.Lys353Asn |