Linked Data
ClinVar Variation Id:
215736
dbSNP Id:
rs863224360
gnomAD v2:
19-1226523-C-T
gnomAD v4:
19-1226524-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226524C>T , CM000681.2:g.1226524C>T | GRCh38 |
| NC_000019.9:g.1226523C>T , CM000681.1:g.1226523C>T | GRCh37 |
| NC_000019.8:g.1177523C>T | NCBI36 |
| NG_007460.2:g.42118C>T , LRG_319:g.42118C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2780C>T | ENSP00000490268.2:n.*2780C>T | |
| ENST00000585748.3:c.807C>T | ENSP00000477641.2:p.Asn269= | |
| ENST00000585851.2:c.1005C>T | ENSP00000467912.2:p.Asn335= | |
| ENST00000326873.12:c.1179C>T MANE Select | ENSP00000324856.6:p.Asn393= | |
| ENST00000326873.11:c.1179C>T | ENSP00000324856.6:p.Asn393= | |
| ENST00000585465.2:n.2912C>T | ||
| ENST00000586243.5:c.1179C>T | ENSP00000467240.2:p.Asn393= | |
| ENST00000589152.5:n.1877C>T | ||
| NM_000455.4:c.1179C>T , LRG_319t1:c.1179C>T | NP_000446.1:p.Asn393= | |
| XM_005259617.1:c.1174C>T | XP_005259674.1:p.Arg392Trp | |
| XM_011528209.1:c.952C>T | XP_011526511.1:p.Arg318Trp | |
| XM_005259617.3:c.1174C>T | XP_005259674.1:p.Arg392Trp | |
| XM_011528209.2:c.952C>T | XP_011526511.1:p.Arg318Trp | |
| XR_001753738.2:n.1985C>T | ||
| XR_001753740.2:n.1955C>T | ||
| NM_000455.5:c.1179C>T MANE Select | NP_000446.1:p.Asn393= |