Linked Data
ClinVar Variation Id:
1431364
dbSNP Id:
rs752944770
ExAC:
6:24528315 C / T
gnomAD v2:
6-24528315-C-T
gnomAD v3:
6-24528087-C-T
gnomAD v4:
6-24528087-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24528087C>T , CM000668.2:g.24528087C>T | GRCh38 |
| NC_000006.11:g.24528315C>T , CM000668.1:g.24528315C>T | GRCh37 |
| NC_000006.10:g.24636294C>T | NCBI36 |
| NG_008161.1:g.38119C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1264C>T MANE Select | ENSP00000350191.3:p.Pro422Ser | |
| ENST00000479394.2:n.379C>T | ||
| ENST00000672352.1:c.883C>T | ENSP00000500876.1:p.Pro295Ser | |
| ENST00000672652.1:c.1227C>T | ||
| ENST00000348925.2:c.1303C>T | ENSP00000314649.3:p.Pro435Ser | |
| ENST00000357578.7:c.1264C>T | ENSP00000350191.3:p.Pro422Ser | |
| ENST00000479394.1:n.379C>T | ||
| ENST00000491546.5:c.1180C>T | ENSP00000417687.1:p.Pro394Ser | |
| NM_001080.3:c.1264C>T MANE Select | NP_001071.1:p.Pro422Ser | |
| NM_170740.1:c.1303C>T | NP_733936.1:p.Pro435Ser | |
| NM_001368954.1:c.1120C>T | NP_001355883.1:p.Pro374Ser |