Linked Data
ClinVar Variation Id:
2986238
ClinVar RCV Id:
RCV003843909
dbSNP Id:
rs1342829642
gnomAD v2:
5-13792295-C-G
gnomAD v3:
5-13792186-C-G
gnomAD v4:
5-13792186-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13792186C>G , CM000667.2:g.13792186C>G | GRCh38 |
| NC_000005.9:g.13792295C>G , CM000667.1:g.13792295C>G | GRCh37 |
| NC_000005.8:g.13845295C>G | NCBI36 |
| NG_013081.1:g.157295G>C | |
| NG_013081.2:g.157295G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.8256G>C MANE Select | ENSP00000265104.4:p.Gln2752His | |
| ENST00000681290.1:c.8211G>C | ENSP00000505288.1:p.Gln2737His | |
| ENST00000265104.4:c.8256G>C | ENSP00000265104.4:p.Gln2752His | |
| NM_001369.2:c.8256G>C | NP_001360.1:p.Gln2752His | |
| XM_005248262.2:c.8211G>C | XP_005248319.1:p.Gln2737His | |
| XM_011513990.1:c.8256G>C | XP_011512292.1:p.Gln2752His | |
| XR_925598.1:n.8463G>C | ||
| XM_005248262.3:c.8364G>C | XP_005248319.2:p.Gln2788His | |
| XM_017009177.1:c.8364G>C | XP_016864666.1:p.Gln2788His | |
| XM_017009178.1:c.7269G>C | XP_016864667.1:p.Gln2423His | |
| XM_017009179.2:c.7269G>C | XP_016864668.1:p.Gln2423His | |
| XM_017009180.1:c.8364G>C | XP_016864669.1:p.Gln2788His | |
| XM_017009181.1:c.8364G>C | XP_016864670.1:p.Gln2788His | |
| XM_017009182.1:c.8364G>C | XP_016864671.1:p.Gln2788His | |
| XM_017009183.1:c.8364G>C | XP_016864672.1:p.Gln2788His | |
| XM_017009184.1:c.8364G>C | XP_016864673.1:p.Gln2788His | |
| XM_017009185.1:c.3453G>C | XP_016864674.1:p.Gln1151His | |
| XM_017009186.1:c.3006G>C | XP_016864675.1:p.Gln1002His | |
| XM_017009188.1:c.2343G>C | XP_016864677.1:p.Gln781His | |
| XM_024454388.1:c.7269G>C | XP_024310156.1:p.Gln2423His | |
| XM_024454389.1:c.6858G>C | XP_024310157.1:p.Gln2286His | |
| XR_001742034.1:n.8381G>C | ||
| XR_001742035.1:n.8381G>C | ||
| NM_001369.3:c.8256G>C MANE Select | NP_001360.1:p.Gln2752His |