Linked Data
ClinVar Variation Id:
498798
ClinVar RCV Id:
RCV000594256
RCV001281185
RCV001328157
RCV001807647
RCV002476296
RCV003994037
RCV003915707
dbSNP Id:
rs1191455921
gnomAD v2:
9-129455598-G-A
gnomAD v4:
9-126693319-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126693319G>A , CM000671.2:g.126693319G>A | GRCh38 |
| NC_000009.11:g.129455598G>A , CM000671.1:g.129455598G>A | GRCh37 |
| NC_000009.10:g.128495419G>A | NCBI36 |
| NG_017039.1:g.83877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355497.10:c.737G>A | ENSP00000347684.5:p.Arg246Gln | |
| ENST00000373474.9:c.737G>A MANE Select | ENSP00000362573.3:p.Arg246Gln | |
| ENST00000526117.6:c.737G>A | ENSP00000436930.1:p.Arg246Gln | |
| ENST00000355497.9:c.737G>A | ENSP00000347684.5:p.Arg246Gln | |
| ENST00000373474.8:c.737G>A | ENSP00000362573.3:p.Arg246Gln | |
| ENST00000526117.5:c.737G>A | ENSP00000436930.1:p.Arg246Gln | |
| ENST00000561065.1:c.668G>A | ENSP00000453580.1:p.Arg223Gln | |
| NM_001174146.1:c.737G>A | NP_001167617.1:p.Arg246Gln | |
| NM_001174147.1:c.737G>A | NP_001167618.1:p.Arg246Gln | |
| NM_002316.3:c.737G>A | NP_002307.2:p.Arg246Gln | |
| NM_001174146.2:c.737G>A | NP_001167617.1:p.Arg246Gln | |
| NM_001174147.2:c.737G>A MANE Select | NP_001167618.1:p.Arg246Gln | |
| NM_002316.4:c.737G>A | NP_002307.2:p.Arg246Gln |