Linked Data
ClinVar Variation Id:
379658
ClinVar RCV Id:
RCV000440701
RCV001159491
RCV001159492
RCV002278662
RCV002446665
RCV000659368
RCV000710783
RCV001080558
dbSNP Id:
rs189557655
ExAC:
7:94033892 C / T
gnomAD v2:
7-94033892-C-T
gnomAD v3:
7-94404580-C-T
gnomAD v4:
7-94404580-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404580C>T , CM000669.2:g.94404580C>T | GRCh38 |
| NC_000007.13:g.94033892C>T , CM000669.1:g.94033892C>T | GRCh37 |
| NC_000007.12:g.93871828C>T | NCBI36 |
| NG_007405.1:g.15020C>T , LRG_2:g.15020C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.304C>T MANE Select | ENSP00000297268.6:p.Pro102Ser | |
| ENST00000297268.10:c.304C>T | ENSP00000297268.6:p.Pro102Ser | |
| ENST00000620463.1:c.298C>T | ENSP00000477719.1:p.Pro100Ser | |
| NM_000089.3:c.304C>T , LRG_2t1:c.304C>T | NP_000080.2:p.Pro102Ser | |
| NM_000089.4:c.304C>T MANE Select | NP_000080.2:p.Pro102Ser |