Linked Data
ClinVar Variation Id:
1777718
ClinVar RCV Id:
RCV002405879
dbSNP Id:
rs796053376
gnomAD v2:
9-130444809-C-A
gnomAD v3:
9-127682530-C-A
gnomAD v4:
9-127682530-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127682530C>A , CM000671.2:g.127682530C>A | GRCh38 |
| NC_000009.11:g.130444809C>A , CM000671.1:g.130444809C>A | GRCh37 |
| NC_000009.10:g.129484630C>A | NCBI36 |
| NG_016623.1:g.75324C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704680.1:c.1630C>A | ENSP00000515991.1:p.Gln544Lys | |
| ENST00000704681.1:c.1617C>A | ENSP00000515992.1:n.1617C>A | |
| ENST00000373299.5:c.1672C>A MANE Select | ENSP00000362396.2:p.Gln558Lys | |
| ENST00000373302.8:c.1672C>A MANE Plus Clinical | ENSP00000362399.3:p.Gln558Lys | |
| ENST00000626539.3:c.1630C>A | ENSP00000487211.2:p.Gln544Lys | |
| ENST00000635950.2:c.1672C>A | ENSP00000490903.1:p.Gln558Lys | |
| ENST00000636509.2:c.*627C>A | ENSP00000490810.1:n.*627C>A | |
| ENST00000636962.2:c.1672C>A | ENSP00000489762.1:p.Gln558Lys | |
| ENST00000637060.2:c.*1314C>A | ENSP00000490674.2:n.*1314C>A | |
| ENST00000637173.2:c.1630C>A | ENSP00000490519.1:p.Gln544Lys | |
| ENST00000637464.2:c.*2536C>A | ENSP00000489655.2:n.*2536C>A | |
| ENST00000637521.2:c.1630C>A | ENSP00000489791.1:p.Gln544Lys | |
| ENST00000637953.1:c.1672C>A | ENSP00000490613.1:p.Gln558Lys | |
| ENST00000647107.1:c.1614C>A | ||
| ENST00000650920.1:c.1630C>A | ENSP00000498834.1:p.Gln544Lys | |
| ENST00000373299.4:c.1672C>A | ENSP00000362396.1:p.Gln558Lys | |
| ENST00000373302.7:c.1672C>A | ENSP00000362399.3:p.Gln558Lys | |
| ENST00000494254.3:c.220C>A | ENSP00000485397.1:p.Gln74Lys | |
| ENST00000626416.2:n.1508C>A | ||
| ENST00000628638.1:n.264C>A | ||
| NM_001032221.3:c.1672C>A | NP_001027392.1:p.Gln558Lys | |
| NM_003165.3:c.1672C>A | NP_003156.1:p.Gln558Lys | |
| NM_001032221.6:c.1672C>A MANE Select | NP_001027392.1:p.Gln558Lys | |
| NM_001374306.2:c.1663C>A | NP_001361235.1:p.Gln555Lys | |
| NM_001374307.2:c.1630C>A | NP_001361236.1:p.Gln544Lys | |
| NM_001374308.2:c.1630C>A | NP_001361237.1:p.Gln544Lys | |
| NM_001374309.2:c.1630C>A | NP_001361238.1:p.Gln544Lys | |
| NM_001374310.2:c.1630C>A | NP_001361239.1:p.Gln544Lys | |
| NM_001374311.2:c.1630C>A | NP_001361240.1:p.Gln544Lys | |
| NM_001374312.2:c.1630C>A | NP_001361241.1:p.Gln544Lys | |
| NM_001374313.2:c.1672C>A | NP_001361242.1:p.Gln558Lys | |
| NM_001374314.1:c.1672C>A | NP_001361243.1:p.Gln558Lys | |
| NM_001374315.2:c.1564C>A | NP_001361244.1:p.Gln522Lys | |
| NM_003165.6:c.1672C>A MANE Plus Clinical | NP_003156.1:p.Gln558Lys |