Linked Data
ClinVar Variation Id:
196281
dbSNP Id:
rs794727484
gnomAD v4:
19-12665493-A-G
PubMed:
PMID:22161967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12665493A>G , CM000681.2:g.12665493A>G | GRCh38 |
| NC_000019.9:g.12776307A>G , CM000681.1:g.12776307A>G | GRCh37 |
| NC_000019.8:g.12637307A>G | NCBI36 |
| NG_008318.1:g.6285T>C | |
| NG_015814.1:g.3690A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.295T>C MANE Select | ENSP00000395473.2:p.Tyr99His | |
| ENST00000221363.8:c.295T>C | ENSP00000221363.4:p.Tyr99His | |
| ENST00000456935.6:c.295T>C | ENSP00000395473.2:p.Tyr99His | |
| ENST00000466794.5:n.277T>C | ||
| ENST00000486847.2:c.192T>C | ENSP00000470174.1:p.Ser64= | |
| ENST00000596512.5:n.233T>C | ||
| ENST00000597961.1:c.286T>C | ENSP00000472710.1:p.Tyr96His | |
| ENST00000598876.1:c.322T>C | ENSP00000470533.1:p.Tyr108His | |
| ENST00000600281.1:n.336T>C | ||
| NM_000528.3:c.295T>C | NP_000519.2:p.Tyr99His | |
| NM_001173498.1:c.295T>C | NP_001166969.1:p.Tyr99His | |
| XM_005259913.1:c.295T>C | XP_005259970.1:p.Tyr99His | |
| XM_005259913.2:c.295T>C | XP_005259970.1:p.Tyr99His | |
| XM_024451518.1:c.-724T>C | XP_024307286.1:n.-724T>C | |
| NM_000528.4:c.295T>C MANE Select | NP_000519.2:p.Tyr99His | |
| NM_001173498.2:c.295T>C | NP_001166969.1:p.Tyr99His |