Linked Data
dbSNP Id:
rs530166880
ExAC:
7:99358480 G / A
gnomAD v2:
7-99358480-G-A
gnomAD v3:
7-99760857-G-A
gnomAD v4:
7-99760857-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99760857G>A , CM000669.2:g.99760857G>A | GRCh38 |
| NC_000007.13:g.99358480G>A , CM000669.1:g.99358480G>A | GRCh37 |
| NC_000007.12:g.99196416G>A | NCBI36 |
| NG_008421.1:g.28329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1471C>T | ENSP00000337915.3:p.Leu491Phe | |
| ENST00000651162.1:n.813C>T | ||
| ENST00000651514.1:c.1378C>T MANE Select | ENSP00000498939.1:p.Leu460Phe | |
| ENST00000651783.1:c.919C>T | ENSP00000498924.1:p.Leu307Phe | |
| ENST00000652018.1:c.1231C>T | ENSP00000498733.1:p.Leu411Phe | |
| ENST00000336411.6:c.1378C>T | ENSP00000337915.2:p.Leu460Phe | |
| ENST00000354593.6:c.928C>T | ENSP00000346607.2:p.Leu310Phe | |
| NM_001202855.2:c.1375C>T | NP_001189784.1:p.Leu459Phe | |
| NM_017460.5:c.1378C>T | NP_059488.2:p.Leu460Phe | |
| XM_011515841.1:c.1471C>T | XP_011514143.1:p.Leu491Phe | |
| XM_011515842.1:c.1468C>T | XP_011514144.1:p.Leu490Phe | |
| NM_017460.6:c.1378C>T MANE Select | NP_059488.2:p.Leu460Phe | |
| NM_001202855.3:c.1375C>T | NP_001189784.1:p.Leu459Phe |