Linked Data
ClinVar Variation Id:
178760
dbSNP Id:
rs339445
ExAC:
5:13944512 A / C
gnomAD v2:
5-13944512-A-C
gnomAD v3:
5-13944403-A-C
gnomAD v4:
5-13944403-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13944403A>C , CM000667.2:g.13944403A>C | GRCh38 |
| NC_000005.9:g.13944512A>C , CM000667.1:g.13944512A>C | GRCh37 |
| NC_000005.8:g.13997512A>C | NCBI36 |
| NG_013081.1:g.5078T>G | |
| NG_013081.2:g.5078T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.36T>G MANE Select | ENSP00000265104.4:p.His12Gln | |
| ENST00000681290.1:c.13-13159T>G | ENSP00000505288.1:n.13-13159T>G | |
| ENST00000265104.4:c.36T>G | ENSP00000265104.4:p.His12Gln | |
| NM_001369.2:c.36T>G | NP_001360.1:p.His12Gln | |
| XM_005248262.2:c.13-13159T>G | XP_005248319.1:n.13-13159T>G | |
| XM_011513990.1:c.36T>G | XP_011512292.1:p.His12Gln | |
| XR_925598.1:n.243T>G | ||
| XM_005248262.3:c.166-13159T>G | XP_005248319.2:n.166-13159T>G | |
| XM_017009177.1:c.166-13159T>G | XP_016864666.1:n.166-13159T>G | |
| XM_017009178.1:c.-980+5014T>G | XP_016864667.1:n.-980+5014T>G | |
| XM_017009180.1:c.166-13159T>G | XP_016864669.1:n.166-13159T>G | |
| XM_017009181.1:c.166-13159T>G | XP_016864670.1:n.166-13159T>G | |
| XM_017009182.1:c.166-13159T>G | XP_016864671.1:n.166-13159T>G | |
| XM_017009183.1:c.166-13159T>G | XP_016864672.1:n.166-13159T>G | |
| XM_017009184.1:c.166-13159T>G | XP_016864673.1:n.166-13159T>G | |
| XM_017009187.1:c.166-13159T>G | XP_016864676.1:n.166-13159T>G | |
| XM_024454388.1:c.-2850+5014T>G | XP_024310156.1:n.-2850+5014T>G | |
| XM_024454389.1:c.-1903+5014T>G | XP_024310157.1:n.-1903+5014T>G | |
| XR_001742034.1:n.183-13159T>G | ||
| XR_001742035.1:n.183-13159T>G | ||
| NM_001369.3:c.36T>G MANE Select | NP_001360.1:p.His12Gln |