Linked Data
ClinVar Variation Id:
207438
dbSNP Id:
rs749244650
ExAC:
9:130444744 G / A
gnomAD v2:
9-130444744-G-A
gnomAD v3:
9-127682465-G-A
gnomAD v4:
9-127682465-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127682465G>A , CM000671.2:g.127682465G>A | GRCh38 |
| NC_000009.11:g.130444744G>A , CM000671.1:g.130444744G>A | GRCh37 |
| NC_000009.10:g.129484565G>A | NCBI36 |
| NG_016623.1:g.75259G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704680.1:c.1565G>A | ENSP00000515991.1:p.Arg522His | |
| ENST00000704681.1:c.1552G>A | ENSP00000515992.1:n.1552G>A | |
| ENST00000373299.5:c.1607G>A MANE Select | ENSP00000362396.2:p.Arg536His | |
| ENST00000373302.8:c.1607G>A MANE Plus Clinical | ENSP00000362399.3:p.Arg536His | |
| ENST00000626539.3:c.1565G>A | ENSP00000487211.2:p.Arg522His | |
| ENST00000635950.2:c.1607G>A | ENSP00000490903.1:p.Arg536His | |
| ENST00000636509.2:c.*562G>A | ENSP00000490810.1:n.*562G>A | |
| ENST00000636962.2:c.1607G>A | ENSP00000489762.1:p.Arg536His | |
| ENST00000637060.2:c.*1249G>A | ENSP00000490674.2:n.*1249G>A | |
| ENST00000637173.2:c.1565G>A | ENSP00000490519.1:p.Arg522His | |
| ENST00000637464.2:c.*2471G>A | ENSP00000489655.2:n.*2471G>A | |
| ENST00000637521.2:c.1565G>A | ENSP00000489791.1:p.Arg522His | |
| ENST00000637953.1:c.1607G>A | ENSP00000490613.1:p.Arg536His | |
| ENST00000647107.1:c.1549G>A | ||
| ENST00000650920.1:c.1565G>A | ENSP00000498834.1:p.Arg522His | |
| ENST00000373299.4:c.1607G>A | ENSP00000362396.1:p.Arg536His | |
| ENST00000373302.7:c.1607G>A | ENSP00000362399.3:p.Arg536His | |
| ENST00000494254.3:c.155G>A | ENSP00000485397.1:p.Arg52His | |
| ENST00000626416.2:n.1443G>A | ||
| ENST00000628638.1:n.199G>A | ||
| NM_001032221.3:c.1607G>A | NP_001027392.1:p.Arg536His | |
| NM_003165.3:c.1607G>A | NP_003156.1:p.Arg536His | |
| NM_001032221.6:c.1607G>A MANE Select | NP_001027392.1:p.Arg536His | |
| NM_001374306.2:c.1598G>A | NP_001361235.1:p.Arg533His | |
| NM_001374307.2:c.1565G>A | NP_001361236.1:p.Arg522His | |
| NM_001374308.2:c.1565G>A | NP_001361237.1:p.Arg522His | |
| NM_001374309.2:c.1565G>A | NP_001361238.1:p.Arg522His | |
| NM_001374310.2:c.1565G>A | NP_001361239.1:p.Arg522His | |
| NM_001374311.2:c.1565G>A | NP_001361240.1:p.Arg522His | |
| NM_001374312.2:c.1565G>A | NP_001361241.1:p.Arg522His | |
| NM_001374313.2:c.1607G>A | NP_001361242.1:p.Arg536His | |
| NM_001374314.1:c.1607G>A | NP_001361243.1:p.Arg536His | |
| NM_001374315.2:c.1499G>A | NP_001361244.1:p.Arg500His | |
| NM_003165.6:c.1607G>A MANE Plus Clinical | NP_003156.1:p.Arg536His |