Linked Data
ClinVar Variation Id:
65907
dbSNP Id:
rs72551319
ExAC:
2:219677652 A / T
gnomAD v2:
2-219677652-A-T
gnomAD v3:
2-218812929-A-T
gnomAD v4:
2-218812929-A-T
PubMed:
PMID:20301583
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812929A>T , CM000664.2:g.218812929A>T | GRCh38 |
| NC_000002.11:g.219677652A>T , CM000664.1:g.219677652A>T | GRCh37 |
| NC_000002.10:g.219385896A>T | NCBI36 |
| NG_007959.1:g.36181A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.850A>T MANE Select | ENSP00000258415.4:p.Lys284Ter | |
| ENST00000258415.8:c.850A>T | ENSP00000258415.4:p.Lys284Ter | |
| ENST00000411688.1:c.568A>T | ENSP00000392671.1:p.Lys190Ter | |
| ENST00000445971.1:c.*311A>T | ENSP00000404945.1:n.*311A>T | |
| ENST00000466602.1:n.972A>T | ||
| ENST00000494263.5:n.1284A>T | ||
| NM_000784.3:c.850A>T | NP_000775.1:p.Lys284Ter | |
| XM_017003488.2:c.430A>T | XP_016858977.1:p.Lys144Ter | |
| NM_000784.4:c.850A>T MANE Select | NP_000775.1:p.Lys284Ter |