Linked Data
ClinVar Variation Id:
525260
ClinVar RCV Id:
RCV000629311
dbSNP Id:
rs754982008
ExAC:
5:13928228 A / C
gnomAD v2:
5-13928228-A-C
gnomAD v3:
5-13928119-A-C
gnomAD v4:
5-13928119-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13928119A>C , CM000667.2:g.13928119A>C | GRCh38 |
| NC_000005.9:g.13928228A>C , CM000667.1:g.13928228A>C | GRCh37 |
| NC_000005.8:g.13981228A>C | NCBI36 |
| NG_013081.1:g.21362T>G | |
| NG_013081.2:g.21362T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000680213.2:n.308T>G | ||
| ENST00000682376.1:n.296T>G | ||
| ENST00000682586.1:n.296T>G | ||
| ENST00000683011.1:n.286T>G | ||
| ENST00000683967.1:n.302T>G | ||
| ENST00000684013.1:n.302T>G | ||
| ENST00000684099.1:n.347T>G | ||
| ENST00000265104.5:c.252T>G MANE Select | ENSP00000265104.4:p.Tyr84Ter | |
| ENST00000680213.1:c.12T>G | ENSP00000506622.1:p.Tyr4Ter | |
| ENST00000681290.1:c.207T>G | ENSP00000505288.1:p.Tyr69Ter | |
| ENST00000265104.4:c.252T>G | ENSP00000265104.4:p.Tyr84Ter | |
| ENST00000508040.1:n.611T>G | ||
| NM_001369.2:c.252T>G | NP_001360.1:p.Tyr84Ter | |
| XM_005248262.2:c.207T>G | XP_005248319.1:p.Tyr69Ter | |
| XM_011513990.1:c.252T>G | XP_011512292.1:p.Tyr84Ter | |
| XR_925598.1:n.459T>G | ||
| XM_005248262.3:c.360T>G | XP_005248319.2:p.Tyr120Ter | |
| XM_017009177.1:c.360T>G | XP_016864666.1:p.Tyr120Ter | |
| XM_017009178.1:c.-785T>G | XP_016864667.1:n.-785T>G | |
| XM_017009180.1:c.360T>G | XP_016864669.1:p.Tyr120Ter | |
| XM_017009181.1:c.360T>G | XP_016864670.1:p.Tyr120Ter | |
| XM_017009182.1:c.360T>G | XP_016864671.1:p.Tyr120Ter | |
| XM_017009183.1:c.360T>G | XP_016864672.1:p.Tyr120Ter | |
| XM_017009184.1:c.360T>G | XP_016864673.1:p.Tyr120Ter | |
| XM_017009187.1:c.360T>G | XP_016864676.1:p.Tyr120Ter | |
| XM_024454388.1:c.-2655T>G | XP_024310156.1:n.-2655T>G | |
| XM_024454389.1:c.-1708T>G | XP_024310157.1:n.-1708T>G | |
| XR_001742034.1:n.377T>G | ||
| XR_001742035.1:n.377T>G | ||
| NM_001369.3:c.252T>G MANE Select | NP_001360.1:p.Tyr84Ter |