Linked Data
ClinVar Variation Id:
414366
dbSNP Id:
rs142969794
ExAC:
5:13944491 C / A
gnomAD v2:
5-13944491-C-A
gnomAD v3:
5-13944382-C-A
gnomAD v4:
5-13944382-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13944382C>A , CM000667.2:g.13944382C>A | GRCh38 |
| NC_000005.9:g.13944491C>A , CM000667.1:g.13944491C>A | GRCh37 |
| NC_000005.8:g.13997491C>A | NCBI36 |
| NG_013081.1:g.5099G>T | |
| NG_013081.2:g.5099G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.57G>T MANE Select | ENSP00000265104.4:p.Thr19= | |
| ENST00000681290.1:c.13-13138G>T | ENSP00000505288.1:n.13-13138G>T | |
| ENST00000265104.4:c.57G>T | ENSP00000265104.4:p.Thr19= | |
| NM_001369.2:c.57G>T | NP_001360.1:p.Thr19= | |
| XM_005248262.2:c.13-13138G>T | XP_005248319.1:n.13-13138G>T | |
| XM_011513990.1:c.57G>T | XP_011512292.1:p.Thr19= | |
| XR_925598.1:n.264G>T | ||
| XM_005248262.3:c.166-13138G>T | XP_005248319.2:n.166-13138G>T | |
| XM_017009177.1:c.166-13138G>T | XP_016864666.1:n.166-13138G>T | |
| XM_017009178.1:c.-980+5035G>T | XP_016864667.1:n.-980+5035G>T | |
| XM_017009180.1:c.166-13138G>T | XP_016864669.1:n.166-13138G>T | |
| XM_017009181.1:c.166-13138G>T | XP_016864670.1:n.166-13138G>T | |
| XM_017009182.1:c.166-13138G>T | XP_016864671.1:n.166-13138G>T | |
| XM_017009183.1:c.166-13138G>T | XP_016864672.1:n.166-13138G>T | |
| XM_017009184.1:c.166-13138G>T | XP_016864673.1:n.166-13138G>T | |
| XM_017009187.1:c.166-13138G>T | XP_016864676.1:n.166-13138G>T | |
| XM_024454388.1:c.-2850+5035G>T | XP_024310156.1:n.-2850+5035G>T | |
| XM_024454389.1:c.-1903+5035G>T | XP_024310157.1:n.-1903+5035G>T | |
| XR_001742034.1:n.183-13138G>T | ||
| XR_001742035.1:n.183-13138G>T | ||
| NM_001369.3:c.57G>T MANE Select | NP_001360.1:p.Thr19= |