Linked Data
ClinVar Variation Id:
12009
ClinVar RCV Id:
RCV000012789
dbSNP Id:
rs387906505
ExAC:
17:41063391 T / A
gnomAD v2:
17-41063391-T-A
gnomAD v4:
17-42911374-T-A
PubMed:
PMID:9001800
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911374T>A , CM000679.2:g.42911374T>A | GRCh38 |
| NC_000017.10:g.41063391T>A , CM000679.1:g.41063391T>A | GRCh37 |
| NC_000017.9:g.38316917T>A | NCBI36 |
| NG_011808.1:g.15577T>A , LRG_147:g.15577T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.1022T>A MANE Select | ENSP00000253801.1:p.Ile341Asn | |
| ENST00000253801.6:c.1022T>A | ENSP00000253801.1:p.Ile341Asn | |
| ENST00000585489.1:c.*414T>A | ENSP00000466202.1:n.*414T>A | |
| NM_000151.3:c.1022T>A | NP_000142.2:p.Ile341Asn | |
| NM_001270397.1:c.*414T>A | NP_001257326.1:n.*414T>A | |
| NM_000151.4:c.1022T>A MANE Select | NP_000142.2:p.Ile341Asn | |
| NM_001270397.2:c.*414T>A | NP_001257326.1:n.*414T>A |