Linked Data
ClinVar Variation Id:
2439306
ClinVar RCV Id:
RCV003141641
dbSNP Id:
rs1413306192
gnomAD v3:
1-1512320-C-T
gnomAD v4:
1-1512320-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1512320C>T , CM000663.2:g.1512320C>T | GRCh38 |
| NC_000001.10:g.1447700C>T , CM000663.1:g.1447700C>T | GRCh37 |
| NC_000001.9:g.1437563C>T | NCBI36 |
| NG_053035.1:g.5178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378756.8:c.52C>T MANE Select | ENSP00000368031.3:p.Pro18Ser | |
| ENST00000672388.1:n.156C>T | ||
| ENST00000378755.9:c.52C>T | ENSP00000368030.5:p.Pro18Ser | |
| ENST00000378756.7:c.52C>T | ENSP00000368031.3:p.Pro18Ser | |
| NM_001170535.1:c.52C>T | NP_001164006.1:p.Pro18Ser | |
| NM_018188.3:c.52C>T | NP_060658.3:p.Pro18Ser | |
| NM_001170535.2:c.52C>T | NP_001164006.1:p.Pro18Ser | |
| NM_018188.4:c.52C>T | NP_060658.3:p.Pro18Ser | |
| XM_024448098.1:c.52C>T | XP_024303866.1:p.Pro18Ser | |
| XR_001737282.1:n.178C>T | ||
| XR_002956997.1:n.178C>T | ||
| NM_001170535.3:c.52C>T MANE Select | NP_001164006.1:p.Pro18Ser | |
| NM_018188.5:c.52C>T | NP_060658.3:p.Pro18Ser |