Linked Data
dbSNP Id:
rs1285952690
gnomAD v2:
7-128482919-A-T
gnomAD v3:
7-128842865-A-T
gnomAD v4:
7-128842865-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128842865A>T , CM000669.2:g.128842865A>T | GRCh38 |
| NC_000007.13:g.128482919A>T , CM000669.1:g.128482919A>T | GRCh37 |
| NC_000007.12:g.128270155A>T | NCBI36 |
| NG_011807.1:g.17437A>T , LRG_870:g.17437A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.2461A>T MANE Select | ENSP00000327145.8:p.Ile821Phe | |
| ENST00000325888.12:c.2461A>T | ENSP00000327145.8:p.Ile821Phe | |
| ENST00000346177.6:c.2461A>T | ENSP00000344002.6:p.Ile821Phe | |
| NM_001127487.1:c.2461A>T | NP_001120959.1:p.Ile821Phe | |
| NM_001458.4:c.2461A>T , LRG_870t1:c.2461A>T | NP_001449.3:p.Ile821Phe | |
| NM_001127487.2:c.2461A>T | NP_001120959.1:p.Ile821Phe | |
| NM_001458.5:c.2461A>T MANE Select | NP_001449.3:p.Ile821Phe |