Linked Data
ClinVar Variation Id:
2691697
ClinVar RCV Id:
RCV003490892
dbSNP Id:
rs367982647
ExAC:
15:90631629 C / T
gnomAD v2:
15-90631629-C-T
gnomAD v3:
15-90088397-C-T
gnomAD v4:
15-90088397-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088397C>T , CM000677.2:g.90088397C>T | GRCh38 |
| NC_000015.9:g.90631629C>T , CM000677.1:g.90631629C>T | GRCh37 |
| NC_000015.8:g.88432633C>T | NCBI36 |
| NG_023302.1:g.19080G>A , LRG_611:g.19080G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.640G>A MANE Select | ENSP00000331897.4:p.Ala214Thr | |
| ENST00000330062.7:c.640G>A | ENSP00000331897.3:p.Ala214Thr | |
| ENST00000540499.2:c.484G>A | ENSP00000446147.2:p.Ala162Thr | |
| ENST00000559482.5:c.313G>A | ENSP00000453016.1:p.Ala105Thr | |
| ENST00000560061.1:c.*265G>A | ENSP00000453254.1:n.*265G>A | |
| NM_001289910.1:c.484G>A , LRG_611t1:c.484G>A | NP_001276839.1:p.Ala162Thr | |
| NM_001290114.1:c.250G>A | NP_001277043.1:p.Ala84Thr | |
| NM_002168.3:c.640G>A , LRG_611t2:c.640G>A | NP_002159.2:p.Ala214Thr | |
| NM_001290114.2:c.250G>A | NP_001277043.1:p.Ala84Thr | |
| NM_002168.4:c.640G>A MANE Select | NP_002159.2:p.Ala214Thr |