Linked Data
dbSNP Id:
rs1237453275
gnomAD v2:
12-52913761-A-T
gnomAD v3:
12-52519977-A-T
gnomAD v4:
12-52519977-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519977A>T , CM000674.2:g.52519977A>T | GRCh38 |
| NC_000012.11:g.52913761A>T , CM000674.1:g.52913761A>T | GRCh37 |
| NC_000012.10:g.51200028A>T | NCBI36 |
| NG_008297.1:g.5483T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.320T>A MANE Select | ENSP00000252242.4:p.Phe107Tyr | |
| ENST00000252242.8:c.320T>A | ENSP00000252242.4:p.Phe107Tyr | |
| ENST00000546577.1:c.320T>A | ENSP00000449651.1:p.Phe107Tyr | |
| ENST00000549420.1:c.44-54T>A | ENSP00000447209.1:n.44-54T>A | |
| ENST00000551275.1:c.215T>A | ENSP00000448041.1:p.Phe72Tyr | |
| ENST00000552629.5:n.418T>A | ||
| NM_000424.3:c.320T>A | NP_000415.2:p.Phe107Tyr | |
| NM_000424.4:c.320T>A MANE Select | NP_000415.2:p.Phe107Tyr |