Linked Data
ClinVar Variation Id:
748147
ClinVar RCV Id:
RCV000924921
dbSNP Id:
rs768093198
ExAC:
9:110249616 G / C
gnomAD v2:
9-110249616-G-C
gnomAD v3:
9-107487335-G-C
gnomAD v4:
9-107487335-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.107487335G>C , CM000671.2:g.107487335G>C | GRCh38 |
| NC_000009.11:g.110249616G>C , CM000671.1:g.110249616G>C | GRCh37 |
| NC_000009.10:g.109289437G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374672.5:c.1059C>G MANE Select | ENSP00000363804.4:p.Pro353= | |
| ENST00000374672.4:c.1059C>G | ENSP00000363804.4:p.Pro353= | |
| ENST00000493306.1:n.1324C>G | ||
| ENST00000497048.5:n.1113C>G | ||
| ENST00000610832.1:c.100-145C>G | ENSP00000483629.1:n.100-145C>G | |
| NM_001314052.1:c.1059C>G | NP_001300981.1:p.Pro353= | |
| NM_004235.4:c.1059C>G | NP_004226.3:p.Pro353= | |
| NM_004235.5:c.1059C>G | NP_004226.3:p.Pro353= | |
| NM_004235.6:c.1059C>G MANE Select | NP_004226.3:p.Pro353= | |
| NM_001314052.2:c.1059C>G | NP_001300981.1:p.Pro353= |