Linked Data
ClinVar Variation Id:
459949
ClinVar RCV Id:
RCV000533495
dbSNP Id:
rs1025558859
gnomAD v2:
19-13002785-G-A
gnomAD v3:
19-12891971-G-A
gnomAD v4:
19-12891971-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12891971G>A , CM000681.2:g.12891971G>A | GRCh38 |
| NC_000019.9:g.13002785G>A , CM000681.1:g.13002785G>A | GRCh37 |
| NC_000019.8:g.12863785G>A | NCBI36 |
| NG_009292.1:g.5812G>A | |
| NG_013087.1:g.233C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.268G>A MANE Select | ENSP00000222214.4:p.Glu90Lys | |
| ENST00000222214.9:c.268G>A | ENSP00000222214.4:p.Glu90Lys | |
| ENST00000421816.6:n.309G>A | ||
| ENST00000585420.5:n.633G>A | ||
| ENST00000585760.5:n.304G>A | ||
| ENST00000587072.1:c.268G>A | ENSP00000468584.1:p.Glu90Lys | |
| ENST00000587832.5:n.325G>A | ||
| ENST00000588905.5:c.232G>A | ENSP00000465770.1:p.Glu78Lys | |
| ENST00000589039.5:c.268G>A | ENSP00000465618.1:p.Glu90Lys | |
| ENST00000590445.5:c.*145G>A | ENSP00000468125.1:n.*145G>A | |
| ENST00000590530.5:c.268G>A | ENSP00000468452.1:p.Glu90Lys | |
| ENST00000590627.5:n.633G>A | ||
| ENST00000591043.1:n.304G>A | ||
| ENST00000591470.5:c.268G>A | ENSP00000466845.1:p.Glu90Lys | |
| NM_000159.3:c.268G>A | NP_000150.1:p.Glu90Lys | |
| NM_013976.3:c.268G>A | NP_039663.1:p.Glu90Lys | |
| NR_102316.1:n.376G>A | ||
| NR_102317.1:n.684G>A | ||
| XM_006722721.2:c.268G>A | XP_006722784.1:p.Glu90Lys | |
| XM_011527899.1:c.268G>A | XP_011526201.1:p.Glu90Lys | |
| XM_011527900.1:c.268G>A | XP_011526202.1:p.Glu90Lys | |
| XM_011527899.2:c.268G>A | XP_011526201.1:p.Glu90Lys | |
| XM_011527900.2:c.268G>A | XP_011526202.1:p.Glu90Lys | |
| XM_017026580.1:c.268G>A | XP_016882069.1:p.Glu90Lys | |
| NM_000159.4:c.268G>A MANE Select | NP_000150.1:p.Glu90Lys | |
| NM_013976.4:c.268G>A | NP_039663.1:p.Glu90Lys | |
| NM_013976.5:c.268G>A | NP_039663.1:p.Glu90Lys |