Linked Data
ClinVar Variation Id:
2446
dbSNP Id:
rs104893977
ExAC:
6:31828235 A / T
gnomAD v2:
6-31828235-A-T
gnomAD v3:
6-31860458-A-T
gnomAD v4:
6-31860458-A-T
PubMed:
PMID:9054950
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860458A>T , CM000668.2:g.31860458A>T | GRCh38 |
| NC_000006.11:g.31828235A>T , CM000668.1:g.31828235A>T | GRCh37 |
| NC_000006.10:g.31936214A>T | NCBI36 |
| NG_008201.1:g.7475T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.779T>A MANE Select | ENSP00000364782.4:p.Phe260Tyr | |
| ENST00000677054.1:n.2022T>A | ||
| ENST00000677512.1:n.887T>A | ||
| ENST00000678869.1:n.1453T>A | ||
| ENST00000375631.4:c.779T>A | ENSP00000364782.4:p.Phe260Tyr | |
| ENST00000480384.1:n.808T>A | ||
| ENST00000491768.5:c.779T>A | ENSP00000433127.1:p.Phe260Tyr | |
| ENST00000495807.1:n.1913T>A | ||
| NM_000434.3:c.779T>A | NP_000425.1:p.Phe260Tyr | |
| NM_000434.4:c.779T>A MANE Select | NP_000425.1:p.Phe260Tyr |