Linked Data
ClinVar Variation Id:
418171
ClinVar RCV Id:
RCV000480945
dbSNP Id:
rs1064793105
gnomAD v4:
X-70030491-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70030491G>A , CM000685.2:g.70030491G>A | GRCh38 |
| NC_000023.10:g.69250341G>A , CM000685.1:g.69250341G>A | GRCh37 |
| NC_000023.9:g.69167066G>A | NCBI36 |
| NG_009809.1:g.419431G>A | |
| NG_009809.2:g.419425G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374552.9:c.764G>A MANE Select | ENSP00000363680.4:p.Gly255Asp | |
| ENST00000374552.8:c.764G>A | ENSP00000363680.4:p.Gly255Asp | |
| ENST00000374553.6:c.764G>A | ENSP00000363681.2:p.Gly255Asp | |
| ENST00000503592.5:c.368G>A | ENSP00000423037.1:p.Gly123Asp | |
| ENST00000524573.5:c.764G>A | ENSP00000432585.1:p.Gly255Asp | |
| ENST00000616899.1:c.368G>A | ENSP00000481963.1:p.Gly123Asp | |
| NM_001005609.1:c.764G>A | NP_001005609.1:p.Gly255Asp | |
| NM_001005612.2:c.764G>A | NP_001005612.2:p.Gly255Asp | |
| NM_001399.4:c.764G>A | NP_001390.1:p.Gly255Asp | |
| XM_006724630.2:c.764G>A | XP_006724693.1:p.Gly255Asp | |
| XM_011530885.1:c.764G>A | XP_011529187.1:p.Gly255Asp | |
| XM_011530885.2:c.764G>A | XP_011529187.1:p.Gly255Asp | |
| XM_017029336.1:c.764G>A | XP_016884825.1:p.Gly255Asp | |
| NM_001399.5:c.764G>A MANE Select | NP_001390.1:p.Gly255Asp | |
| NM_001005609.2:c.764G>A | NP_001005609.1:p.Gly255Asp | |
| NM_001005612.3:c.764G>A | NP_001005612.2:p.Gly255Asp |