Linked Data
ClinVar Variation Id:
198716
ClinVar RCV Id:
RCV000180141
dbSNP Id:
rs794727900
gnomAD v2:
15-89753981-G-A
gnomAD v4:
15-89210750-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89210750G>A , CM000677.2:g.89210750G>A | GRCh38 |
| NC_000015.9:g.89753981G>A , CM000677.1:g.89753981G>A | GRCh37 |
| NC_000015.8:g.87554985G>A | NCBI36 |
| NG_008116.1:g.15942C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268125.10:c.744C>T MANE Select | ENSP00000268125.5:p.Thr248= | |
| ENST00000268125.9:c.744C>T | ENSP00000268125.5:p.Thr248= | |
| ENST00000563254.1:c.116C>T | ||
| ENST00000567787.1:c.*322C>T | ENSP00000457251.1:n.*322C>T | |
| NM_000326.4:c.744C>T | NP_000317.1:p.Thr248= | |
| XM_011521870.1:c.744C>T | XP_011520172.1:p.Thr248= | |
| XM_011521871.1:c.669C>T | XP_011520173.1:p.Thr223= | |
| XM_011521872.1:c.669C>T | XP_011520174.1:p.Thr223= | |
| XM_011521870.2:c.744C>T | XP_011520172.1:p.Thr248= | |
| XM_017022460.1:c.771C>T | XP_016877949.1:p.Thr257= | |
| NM_000326.5:c.744C>T MANE Select | NP_000317.1:p.Thr248= |