Linked Data
ClinVar Variation Id:
2139560
ClinVar RCV Id:
RCV003052659
dbSNP Id:
rs774158039
ExAC:
9:101304194 G / C
gnomAD v2:
9-101304194-G-C
gnomAD v3:
9-98541912-G-C
gnomAD v4:
9-98541912-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541912G>C , CM000671.2:g.98541912G>C | GRCh38 |
| NC_000009.11:g.101304194G>C , CM000671.1:g.101304194G>C | GRCh37 |
| NC_000009.10:g.100344015G>C | NCBI36 |
| NG_016426.1:g.172286C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.591C>G MANE Select | ENSP00000259455.2:p.Arg197= | |
| ENST00000637410.1:n.369C>G | ||
| ENST00000637717.1:c.207C>G | ENSP00000490789.1:p.Arg69= | |
| ENST00000259455.3:c.591C>G | ENSP00000259455.2:p.Arg197= | |
| ENST00000477471.1:n.378C>G | ||
| ENST00000634227.1:n.365C>G | ||
| NM_005458.7:c.591C>G | NP_005449.5:p.Arg197= | |
| XM_017015331.2:c.297C>G | XP_016870820.1:p.Arg99= | |
| NM_005458.8:c.591C>G MANE Select | NP_005449.5:p.Arg197= |