Linked Data
ClinVar Variation Id:
7743
dbSNP Id:
rs104893629
ExAC:
2:38298230 T / A
gnomAD v2:
2-38298230-T-A
gnomAD v3:
2-38071087-T-A
gnomAD v4:
2-38071087-T-A
PubMed:
PMID:15342693
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071087T>A , CM000664.2:g.38071087T>A | GRCh38 |
| NC_000002.11:g.38298230T>A , CM000664.1:g.38298230T>A | GRCh37 |
| NC_000002.10:g.38151734T>A | NCBI36 |
| NG_008386.2:g.10015A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1267A>T | ENSP00000478839.2:p.Asn423Tyr | |
| ENST00000610745.5:c.1267A>T MANE Select | ENSP00000478561.1:p.Asn423Tyr | |
| ENST00000492443.1:n.645A>T | ||
| ENST00000494864.1:c.154A>T | ENSP00000479876.1:p.Asn52Tyr | |
| ENST00000610745.4:c.1267A>T | ENSP00000478561.1:p.Asn423Tyr | |
| ENST00000614273.1:c.1267A>T | ENSP00000483678.1:p.Asn423Tyr | |
| NM_000104.3:c.1267A>T | NP_000095.2:p.Asn423Tyr | |
| NM_000104.4:c.1267A>T MANE Select | NP_000095.2:p.Asn423Tyr |