Linked Data
ClinVar Variation Id:
10213
ClinVar RCV Id:
RCV000010926
dbSNP Id:
rs111033616
PubMed:
PMID:8322269
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966065A>T , CM000685.2:g.154966065A>T | GRCh38 |
| NC_000023.10:g.154194340A>T , CM000685.1:g.154194340A>T | GRCh37 |
| NC_000023.9:g.153847534A>T | NCBI36 |
| NG_011403.1:g.61659T>A | |
| NG_011403.2:g.61659T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1348T>A MANE Select | ENSP00000353393.4:p.Tyr450Asn | |
| ENST00000647125.1:c.*1224T>A | ENSP00000496062.1:n.*1224T>A | |
| ENST00000360256.8:c.1348T>A | ENSP00000353393.4:p.Tyr450Asn | |
| ENST00000483822.2:n.168T>A | ||
| NM_000132.3:c.1348T>A | NP_000123.1:p.Tyr450Asn | |
| XM_011531126.1:c.1243T>A | XP_011529428.1:p.Tyr415Asn | |
| NM_000132.4:c.1348T>A MANE Select | NP_000123.1:p.Tyr450Asn |