Linked Data
ClinVar Variation Id:
2533809
ClinVar RCV Id:
RCV003291456
dbSNP Id:
rs766983025
ExAC:
19:918615 C / T
gnomAD v2:
19-918615-C-T
gnomAD v3:
19-918615-C-T
gnomAD v4:
19-918615-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.918615C>T , CM000681.2:g.918615C>T | GRCh38 |
| NC_000019.9:g.918615C>T , CM000681.1:g.918615C>T | GRCh37 |
| NC_000019.8:g.869615C>T | NCBI36 |
| NG_008277.1:g.6274C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234371.10:c.316C>T MANE Select | ENSP00000234371.3:p.Pro106Ser | |
| ENST00000234371.9:c.316C>T | ENSP00000234371.3:p.Pro106Ser | |
| ENST00000592648.1:c.244+869C>T | ENSP00000467666.1:n.244+869C>T | |
| ENST00000606939.2:c.316C>T | ENSP00000475639.1:p.Pro106Ser | |
| NM_032551.4:c.316C>T | NP_115940.2:p.Pro106Ser | |
| XM_017027382.1:c.316C>T | XP_016882871.1:p.Pro106Ser | |
| NM_032551.5:c.316C>T MANE Select | NP_115940.2:p.Pro106Ser |