Linked Data
ClinVar Variation Id:
527974
dbSNP Id:
rs1365453773
gnomAD v2:
13-23949346-G-A
gnomAD v3:
13-23375207-G-A
gnomAD v4:
13-23375207-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23375207G>A , CM000675.2:g.23375207G>A | GRCh38 |
| NC_000013.10:g.23949346G>A , CM000675.1:g.23949346G>A | GRCh37 |
| NC_000013.9:g.22847346G>A | NCBI36 |
| NG_012342.1:g.63496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682244.1:n.656C>T | ||
| ENST00000682547.1:c.120C>T | ENSP00000507735.1:p.Val40= | |
| ENST00000682775.1:c.83C>T | ENSP00000508399.1:p.Ser28Phe | |
| ENST00000682944.1:c.83C>T | ENSP00000507173.1:p.Ser28Phe | |
| ENST00000683154.1:n.221C>T | ||
| ENST00000683210.1:c.83C>T | ENSP00000506739.1:p.Ser28Phe | |
| ENST00000683270.1:c.74C>T | ENSP00000507624.1:p.Ser25Phe | |
| ENST00000683367.1:c.74C>T | ENSP00000507780.1:p.Ser25Phe | |
| ENST00000683489.1:c.83C>T | ENSP00000508403.1:p.Ser28Phe | |
| ENST00000683680.1:c.83C>T | ENSP00000507223.1:p.Ser28Phe | |
| ENST00000684053.1:n.200C>T | ||
| ENST00000684163.1:c.74C>T | ENSP00000508262.1:p.Ser25Phe | |
| ENST00000684325.1:c.83C>T | ENSP00000508121.1:p.Ser28Phe | |
| ENST00000684385.1:c.83C>T | ENSP00000507855.1:p.Ser28Phe | |
| ENST00000684497.1:c.83C>T | ENSP00000507057.1:p.Ser28Phe | |
| ENST00000382292.9:c.83C>T MANE Select | ENSP00000371729.3:p.Ser28Phe | |
| ENST00000423156.2:c.83C>T | ENSP00000390925.2:p.Ser28Phe | |
| ENST00000455470.6:c.83C>T | ENSP00000406565.2:p.Ser28Phe | |
| ENST00000382292.7:c.83C>T | ENSP00000371729.3:p.Ser28Phe | |
| ENST00000382298.7:c.83C>T | ENSP00000371735.3:p.Ser28Phe | |
| ENST00000402364.1:c.-2080C>T | ENSP00000385844.1:n.-2080C>T | |
| NM_001278055.1:c.-271C>T | NP_001264984.1:n.-271C>T | |
| NM_014363.5:c.83C>T | NP_055178.3:p.Ser28Phe | |
| XM_005266338.1:c.83C>T | XP_005266395.1:p.Ser28Phe | |
| XM_011535038.1:c.107C>T | XP_011533340.1:p.Ser36Phe | |
| XM_011535039.1:c.74C>T | XP_011533341.1:p.Ser25Phe | |
| XM_005266338.2:c.83C>T | XP_005266395.1:p.Ser28Phe | |
| XM_011535039.2:c.74C>T | XP_011533341.1:p.Ser25Phe | |
| XM_017020539.1:c.74C>T | XP_016876028.1:p.Ser25Phe | |
| XM_024449337.1:c.83C>T | XP_024305105.1:p.Ser28Phe | |
| NM_014363.6:c.83C>T MANE Select | NP_055178.3:p.Ser28Phe | |
| NM_001278055.2:c.-271C>T | NP_001264984.1:n.-271C>T |