Linked Data
ClinVar Variation Id:
1375034
ClinVar RCV Id:
RCV001883245
dbSNP Id:
rs774999308
ExAC:
2:219677456 T / G
gnomAD v2:
2-219677456-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812733T>G , CM000664.2:g.218812733T>G | GRCh38 |
| NC_000002.11:g.219677456T>G , CM000664.1:g.219677456T>G | GRCh37 |
| NC_000002.10:g.219385700T>G | NCBI36 |
| NG_007959.1:g.35985T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.828T>G MANE Select | ENSP00000258415.4:p.Asn276Lys | |
| ENST00000258415.8:c.828T>G | ENSP00000258415.4:p.Asn276Lys | |
| ENST00000411688.1:c.546T>G | ENSP00000392671.1:p.Asn182Lys | |
| ENST00000445971.1:c.*289T>G | ENSP00000404945.1:n.*289T>G | |
| ENST00000466602.1:n.776T>G | ||
| ENST00000494263.5:n.1262T>G | ||
| NM_000784.3:c.828T>G | NP_000775.1:p.Asn276Lys | |
| XM_017003488.2:c.408T>G | XP_016858977.1:p.Asn136Lys | |
| NM_000784.4:c.828T>G MANE Select | NP_000775.1:p.Asn276Lys |