Linked Data
dbSNP Id:
rs768323664
ExAC:
7:99358467 G / A
gnomAD v2:
7-99358467-G-A
gnomAD v3:
7-99760844-G-A
gnomAD v4:
7-99760844-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99760844G>A , CM000669.2:g.99760844G>A | GRCh38 |
| NC_000007.13:g.99358467G>A , CM000669.1:g.99358467G>A | GRCh37 |
| NC_000007.12:g.99196403G>A | NCBI36 |
| NG_008421.1:g.28342C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1484C>T | ENSP00000337915.3:p.Ser495Phe | |
| ENST00000651162.1:n.826C>T | ||
| ENST00000651514.1:c.1391C>T MANE Select | ENSP00000498939.1:p.Ser464Phe | |
| ENST00000651783.1:c.932C>T | ENSP00000498924.1:p.Ser311Phe | |
| ENST00000652018.1:c.1244C>T | ENSP00000498733.1:p.Ser415Phe | |
| ENST00000336411.6:c.1391C>T | ENSP00000337915.2:p.Ser464Phe | |
| ENST00000354593.6:c.941C>T | ENSP00000346607.2:p.Ser314Phe | |
| NM_001202855.2:c.1388C>T | NP_001189784.1:p.Ser463Phe | |
| NM_017460.5:c.1391C>T | NP_059488.2:p.Ser464Phe | |
| XM_011515841.1:c.1484C>T | XP_011514143.1:p.Ser495Phe | |
| XM_011515842.1:c.1481C>T | XP_011514144.1:p.Ser494Phe | |
| NM_017460.6:c.1391C>T MANE Select | NP_059488.2:p.Ser464Phe | |
| NM_001202855.3:c.1388C>T | NP_001189784.1:p.Ser463Phe |