Linked Data
gnomAD v4:
2-38071203-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071203A>T , CM000664.2:g.38071203A>T | GRCh38 |
| NC_000002.11:g.38298346A>T , CM000664.1:g.38298346A>T | GRCh37 |
| NC_000002.10:g.38151850A>T | NCBI36 |
| NG_008386.2:g.9899T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490576.2:c.1151T>A | ENSP00000478839.2:p.Phe384Tyr | |
| ENST00000610745.5:c.1151T>A MANE Select | ENSP00000478561.1:p.Phe384Tyr | |
| ENST00000492443.1:n.529T>A | ||
| ENST00000494864.1:c.38T>A | ENSP00000479876.1:p.Phe13Tyr | |
| ENST00000610745.4:c.1151T>A | ENSP00000478561.1:p.Phe384Tyr | |
| ENST00000613082.1:n.546T>A | ||
| ENST00000614273.1:c.1151T>A | ENSP00000483678.1:p.Phe384Tyr | |
| NM_000104.3:c.1151T>A | NP_000095.2:p.Phe384Tyr | |
| NM_000104.4:c.1151T>A MANE Select | NP_000095.2:p.Phe384Tyr |