Linked Data
ClinVar Variation Id:
1482159
ClinVar RCV Id:
RCV002025105
dbSNP Id:
rs1367930337
gnomAD v4:
1-54865336-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54865336G>C , CM000663.2:g.54865336G>C | GRCh38 |
| NC_000001.10:g.55331009G>C , CM000663.1:g.55331009G>C | GRCh37 |
| NC_000001.9:g.55103597G>C | NCBI36 |
| NG_008839.1:g.26913C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371269.9:c.987C>G MANE Select | ENSP00000360316.3:p.His329Gln | |
| ENST00000436604.2:c.987C>G | ENSP00000416585.2:p.His329Gln | |
| ENST00000535035.6:c.987C>G | ENSP00000440191.3:p.His329Gln | |
| ENST00000647585.1:n.791C>G | ||
| ENST00000647912.1:c.*622C>G | ENSP00000497559.1:n.*622C>G | |
| ENST00000648712.1:n.1105C>G | ||
| ENST00000648728.1:c.*642C>G | ENSP00000497084.1:n.*642C>G | |
| ENST00000649769.1:c.*642C>G | ENSP00000498012.1:n.*642C>G | |
| ENST00000371269.7:c.987C>G | ENSP00000360316.3:p.His329Gln | |
| ENST00000535035.5:c.720C>G | ENSP00000440191.2:p.His240Gln | |
| NM_014762.3:c.987C>G | NP_055577.1:p.His329Gln | |
| NM_014762.4:c.987C>G MANE Select | NP_055577.1:p.His329Gln |