Linked Data
ClinVar Variation Id:
2683026
ClinVar RCV Id:
RCV003481893
dbSNP Id:
rs1262428013
gnomAD v2:
8-103237216-G-A
gnomAD v4:
8-102224988-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102224988G>A , CM000670.2:g.102224988G>A | GRCh38 |
| NC_000008.10:g.103237216G>A , CM000670.1:g.103237216G>A | GRCh37 |
| NC_000008.9:g.103306392G>A | NCBI36 |
| NG_016617.1:g.19131C>T , LRG_788:g.19131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.352C>T MANE Select | ENSP00000251810.3:p.Pro118Ser | |
| ENST00000251810.7:c.352C>T | ENSP00000251810.3:p.Pro118Ser | |
| ENST00000395912.6:c.196C>T | ENSP00000379248.2:p.Pro66Ser | |
| ENST00000519317.5:c.49-10830C>T | ENSP00000430641.1:n.49-10830C>T | |
| ENST00000519962.5:c.48+13839C>T | ENSP00000429140.1:n.48+13839C>T | |
| ENST00000522368.5:c.521C>T | ||
| ENST00000522394.1:c.122+7243C>T | ENSP00000429578.1:n.122+7243C>T | |
| ENST00000523957.1:c.*275C>T | ENSP00000427830.1:n.*275C>T | |
| ENST00000621845.1:c.190C>T | ENSP00000484318.1:p.Pro64Ser | |
| NM_001172477.1:c.568C>T , LRG_788t1:c.568C>T | NP_001165948.1:p.Pro190Ser | |
| NM_001172478.1:c.196C>T | NP_001165949.1:p.Pro66Ser | |
| NM_015713.4:c.352C>T , LRG_788t2:c.352C>T | NP_056528.2:p.Pro118Ser | |
| NM_001172478.2:c.196C>T | NP_001165949.1:p.Pro66Ser | |
| NM_015713.5:c.352C>T MANE Select | NP_056528.2:p.Pro118Ser |