Linked Data
ClinVar Variation Id:
1236675
dbSNP Id:
rs11531577
ExAC:
7:99778227 G / T
gnomAD v2:
7-99778227-G-T
gnomAD v3:
7-100180604-G-T
gnomAD v4:
7-100180604-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100180604G>T , CM000669.2:g.100180604G>T | GRCh38 |
| NC_000007.13:g.99778227G>T , CM000669.1:g.99778227G>T | GRCh37 |
| NC_000007.12:g.99616163G>T | NCBI36 |
| NG_034114.1:g.7881G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412190.6:c.48G>T | ENSP00000395039.2:p.Leu16Phe | |
| ENST00000615138.5:c.48G>T MANE Select | ENSP00000477973.1:p.Leu16Phe | |
| ENST00000620100.5:c.48G>T | ENSP00000484098.1:p.Leu16Phe | |
| ENST00000317296.9:c.48G>T | ENSP00000319318.5:p.Leu16Phe | |
| ENST00000394018.6:c.48G>T | ENSP00000377586.2:p.Leu16Phe | |
| ENST00000416412.5:c.48G>T | ENSP00000409283.1:p.Leu16Phe | |
| ENST00000422690.5:c.48G>T | ENSP00000407884.1:p.Leu16Phe | |
| ENST00000426455.5:c.48G>T | ENSP00000400359.1:p.Leu16Phe | |
| ENST00000439782.1:c.48G>T | ENSP00000397067.1:p.Leu16Phe | |
| ENST00000482546.1:n.181G>T | ||
| ENST00000496157.5:n.183G>T | ||
| ENST00000615138.4:c.48G>T | ENSP00000477973.1:p.Leu16Phe | |
| ENST00000620100.4:c.48G>T | ENSP00000484098.1:p.Leu16Phe | |
| NM_001282716.1:c.48G>T | NP_001269645.1:p.Leu16Phe | |
| NM_001282717.1:c.48G>T | NP_001269646.1:p.Leu16Phe | |
| NM_001282718.1:c.48G>T | NP_001269647.1:p.Leu16Phe | |
| NM_012447.3:c.48G>T | NP_036579.2:p.Leu16Phe | |
| XM_005250116.1:c.48G>T | XP_005250173.1:p.Leu16Phe | |
| XM_011515742.1:c.48G>T | XP_011514044.1:p.Leu16Phe | |
| XM_011515743.1:c.48G>T | XP_011514045.1:p.Leu16Phe | |
| XM_011515744.1:c.48G>T | XP_011514046.1:p.Leu16Phe | |
| XM_017011683.2:c.48G>T | XP_016867172.1:p.Leu16Phe | |
| XM_017011684.1:c.48G>T | XP_016867173.1:p.Leu16Phe | |
| XM_017011685.1:c.48G>T | XP_016867174.1:p.Leu16Phe | |
| XM_017011686.2:c.48G>T | XP_016867175.1:p.Leu16Phe | |
| XM_017011687.1:c.48G>T | XP_016867176.1:p.Leu16Phe | |
| NM_001282717.2:c.48G>T MANE Select | NP_001269646.1:p.Leu16Phe | |
| NM_001282718.2:c.48G>T | NP_001269647.1:p.Leu16Phe | |
| NM_001375438.1:c.48G>T | NP_001362367.1:p.Leu16Phe | |
| NM_012447.4:c.48G>T | NP_036579.2:p.Leu16Phe |