Linked Data
ClinVar Variation Id:
296826
ClinVar RCV Id:
RCV000300969
dbSNP Id:
rs752384408
ExAC:
1:24122674 C / G
gnomAD v2:
1-24122674-C-G
gnomAD v3:
1-23796184-C-G
gnomAD v4:
1-23796184-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23796184C>G , CM000663.2:g.23796184C>G | GRCh38 |
| NC_000001.10:g.24122674C>G , CM000663.1:g.24122674C>G | GRCh37 |
| NC_000001.9:g.23995261C>G | NCBI36 |
| NG_007068.1:g.9621G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.955G>C MANE Select | ENSP00000483375.1:p.Gly319Arg | |
| ENST00000374497.7:c.955G>C | ENSP00000363621.3:p.Gly319Arg | |
| ENST00000429356.5:c.685G>C | ENSP00000398585.1:p.Gly229Arg | |
| ENST00000456977.5:c.235G>C | ENSP00000397045.1:p.Gly79Arg | |
| ENST00000459934.5:n.1183G>C | ||
| ENST00000469556.1:n.702G>C | ||
| ENST00000481736.5:n.1359G>C | ||
| ENST00000617979.4:c.955G>C | ENSP00000483375.1:p.Gly319Arg | |
| NM_000403.3:c.955G>C | NP_000394.2:p.Gly319Arg | |
| NM_001008216.1:c.955G>C | NP_001008217.1:p.Gly319Arg | |
| NM_001127621.1:c.955G>C | NP_001121093.1:p.Gly319Arg | |
| NM_001008216.2:c.955G>C MANE Select | NP_001008217.1:p.Gly319Arg | |
| NM_000403.4:c.955G>C | NP_000394.2:p.Gly319Arg | |
| NM_001127621.2:c.955G>C | NP_001121093.1:p.Gly319Arg |