Linked Data
ClinVar Variation Id:
44841
dbSNP Id:
rs61731036
ExAC:
7:24738802 A / T
gnomAD v2:
7-24738802-A-T
gnomAD v3:
7-24699183-A-T
gnomAD v4:
7-24699183-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24699183A>T , CM000669.2:g.24699183A>T | GRCh38 |
| NC_000007.13:g.24738802A>T , CM000669.1:g.24738802A>T | GRCh37 |
| NC_000007.12:g.24705327A>T | NCBI36 |
| NG_011593.1:g.63838T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342947.9:c.1334T>A | ENSP00000339587.3:p.Phe445Tyr | |
| ENST00000409970.6:c.842T>A | ENSP00000387119.1:p.Phe281Tyr | |
| ENST00000419307.6:c.842T>A | ENSP00000401332.1:p.Phe281Tyr | |
| ENST00000645220.1:c.1334T>A MANE Select | ENSP00000494186.1:p.Phe445Tyr | |
| ENST00000342947.7:c.1334T>A | ENSP00000339587.3:p.Phe445Tyr | |
| ENST00000409775.7:c.1334T>A | ENSP00000386670.3:p.Phe445Tyr | |
| ENST00000409970.5:c.842T>A | ENSP00000387119.1:p.Phe281Tyr | |
| ENST00000419307.5:c.842T>A | ENSP00000401332.1:p.Phe281Tyr | |
| ENST00000479636.1:n.3355T>A | ||
| NM_001127453.1:c.1334T>A | NP_001120925.1:p.Phe445Tyr | |
| NM_001127454.1:c.842T>A | NP_001120926.1:p.Phe281Tyr | |
| NM_004403.2:c.1334T>A | NP_004394.1:p.Phe445Tyr | |
| XM_017011802.1:c.842T>A | XP_016867291.1:p.Phe281Tyr | |
| XM_024446670.1:c.1334T>A | XP_024302438.1:p.Phe445Tyr | |
| NM_004403.3:c.1334T>A | NP_004394.1:p.Phe445Tyr | |
| NM_001127453.2:c.1334T>A MANE Select | NP_001120925.1:p.Phe445Tyr | |
| NM_001127454.2:c.842T>A | NP_001120926.1:p.Phe281Tyr |