Linked Data
ClinVar Variation Id:
2202335
ClinVar RCV Id:
RCV002647939
dbSNP Id:
rs544075244
gnomAD v4:
14-50130591-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130591G>A , CM000676.2:g.50130591G>A | GRCh38 |
| NC_000014.8:g.50597309G>A , CM000676.1:g.50597309G>A | GRCh37 |
| NC_000014.7:g.49667059G>A | NCBI36 |
| NG_051073.1:g.106103C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3247C>T MANE Select | ENSP00000216373.5:p.Pro1083Ser | |
| ENST00000216373.9:c.3247C>T | ENSP00000216373.5:p.Pro1083Ser | |
| ENST00000543680.5:c.3148C>T | ENSP00000445328.1:p.Pro1050Ser | |
| NM_006939.2:c.3247C>T | NP_008870.2:p.Pro1083Ser | |
| XM_005268021.1:c.3067C>T | XP_005268078.1:p.Pro1023Ser | |
| XM_011537103.1:c.3208C>T | XP_011535405.1:p.Pro1070Ser | |
| NM_006939.3:c.3247C>T | NP_008870.2:p.Pro1083Ser | |
| NM_006939.4:c.3247C>T MANE Select | NP_008870.2:p.Pro1083Ser |