Linked Data
dbSNP Id:
rs1337585185
gnomAD v2:
9-123724966-T-A
gnomAD v3:
9-120962688-T-A
gnomAD v4:
9-120962688-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120962688T>A , CM000671.2:g.120962688T>A | GRCh38 |
| NC_000009.11:g.123724966T>A , CM000671.1:g.123724966T>A | GRCh37 |
| NC_000009.10:g.122764787T>A | NCBI36 |
| NG_007364.1:g.92589A>T , LRG_28:g.92589A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1521A>T | ||
| ENST00000696279.1:c.4807A>T | ||
| ENST00000696280.1:n.4576A>T | ||
| ENST00000696281.1:c.4505A>T | ENSP00000512521.1:p.Tyr1502Phe | |
| ENST00000697921.1:n.3365A>T | ||
| ENST00000697922.1:c.*4477A>T | ENSP00000513478.1:n.*4477A>T | |
| ENST00000697923.1:n.4932A>T | ||
| ENST00000223642.3:c.4487A>T MANE Select | ENSP00000223642.1:p.Tyr1496Phe | |
| ENST00000223642.2:c.4487A>T | ENSP00000223642.1:p.Tyr1496Phe | |
| ENST00000480188.1:n.20A>T | ||
| NM_001735.2:c.4487A>T , LRG_28t1:c.4487A>T | NP_001726.2:p.Tyr1496Phe | |
| XM_011518980.1:c.4502A>T | XP_011517282.1:p.Tyr1501Phe | |
| NM_001317163.1:c.4505A>T | NP_001304092.1:p.Tyr1502Phe | |
| NM_001317163.2:c.4505A>T | NP_001304092.1:p.Tyr1502Phe | |
| NM_001735.3:c.4487A>T MANE Select | NP_001726.2:p.Tyr1496Phe |