Linked Data
dbSNP Id:
rs1432950739
gnomAD v2:
7-158827284-T-G
gnomAD v3:
7-159034593-T-G
gnomAD v4:
7-159034593-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.159034593T>G , CM000669.2:g.159034593T>G | GRCh38 |
| NC_000007.13:g.158827284T>G , CM000669.1:g.158827284T>G | GRCh37 |
| NC_000007.12:g.158520045T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262178.7:c.867A>C MANE Select | ENSP00000262178.2:p.Leu289Phe | |
| ENST00000262178.6:c.867A>C | ENSP00000262178.2:p.Leu289Phe | |
| ENST00000377633.7:c.819A>C | ENSP00000366860.3:p.Leu273Phe | |
| ENST00000402066.5:c.1290A>C | ENSP00000384497.1:p.Leu430Phe | |
| NM_001304522.1:c.627A>C | NP_001291451.1:p.Leu209Phe | |
| NM_001308259.1:c.819A>C | NP_001295188.1:p.Leu273Phe | |
| NM_003382.4:c.867A>C | NP_003373.2:p.Leu289Phe | |
| NR_130758.1:n.1053A>C | ||
| XM_005249561.2:c.942A>C | XP_005249618.1:p.Leu314Phe | |
| XM_006716107.1:c.867A>C | XP_006716170.1:p.Leu289Phe | |
| XM_006716108.2:c.678A>C | XP_006716171.1:p.Leu226Phe | |
| XM_011516550.1:c.819A>C | XP_011514852.1:p.Leu273Phe | |
| XM_011516552.1:c.453A>C | XP_011514854.1:p.Leu151Phe | |
| XR_242047.2:n.1262A>C | ||
| XM_005249561.3:c.942A>C | XP_005249618.1:p.Leu314Phe | |
| XM_006716107.2:c.867A>C | XP_006716170.1:p.Leu289Phe | |
| XM_006716108.3:c.678A>C | XP_006716171.1:p.Leu226Phe | |
| XM_011516550.2:c.819A>C | XP_011514852.1:p.Leu273Phe | |
| XM_017012580.1:c.453A>C | XP_016868069.1:p.Leu151Phe | |
| XM_024446914.1:c.942A>C | XP_024302682.1:p.Leu314Phe | |
| XM_024446915.1:c.942A>C | XP_024302683.1:p.Leu314Phe | |
| XM_024446916.1:c.867A>C | XP_024302684.1:p.Leu289Phe | |
| XM_024446917.1:c.678A>C | XP_024302685.1:p.Leu226Phe | |
| XM_024446918.1:c.453A>C | XP_024302686.1:p.Leu151Phe | |
| NM_003382.5:c.867A>C MANE Select | NP_003373.2:p.Leu289Phe | |
| NM_001304522.2:c.627A>C | NP_001291451.1:p.Leu209Phe | |
| NR_130758.2:n.963A>C |