Linked Data
ClinVar Variation Id:
1117293
ClinVar RCV Id:
RCV001445965
dbSNP Id:
rs746686260
ExAC:
1:216243618 T / C
gnomAD v2:
1-216243618-T-C
gnomAD v3:
1-216070276-T-C
gnomAD v4:
1-216070276-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216070276T>C , CM000663.2:g.216070276T>C | GRCh38 |
| NC_000001.10:g.216243618T>C , CM000663.1:g.216243618T>C | GRCh37 |
| NC_000001.9:g.214310241T>C | NCBI36 |
| NG_009497.1:g.358121A>G | |
| NG_009497.2:g.358173A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.5874A>G MANE Select | ENSP00000305941.3:p.Pro1958= | |
| ENST00000674083.1:c.5874A>G | ENSP00000501296.1:p.Pro1958= | |
| ENST00000307340.7:c.5874A>G | ENSP00000305941.3:p.Pro1958= | |
| NM_206933.2:c.5874A>G | NP_996816.2:p.Pro1958= | |
| NM_206933.3:c.5874A>G | NP_996816.2:p.Pro1958= | |
| NM_206933.4:c.5874A>G MANE Select | NP_996816.3:p.Pro1958= |