Linked Data
ClinVar Variation Id:
2976160
ClinVar RCV Id:
RCV003836310
dbSNP Id:
rs1191680062
gnomAD v3:
22-29480533-G-C
gnomAD v4:
22-29480533-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29480533G>C , CM000684.2:g.29480533G>C | GRCh38 |
| NC_000022.10:g.29876522G>C , CM000684.1:g.29876522G>C | GRCh37 |
| NC_000022.9:g.28206522G>C | NCBI36 |
| NG_008404.1:g.5342G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310624.7:c.271G>C MANE Select | ENSP00000311997.6:p.Val91Leu | |
| ENST00000310624.6:c.271G>C | ENSP00000311997.6:p.Val91Leu | |
| NM_021076.3:c.271G>C | NP_066554.2:p.Val91Leu | |
| XM_011530200.1:c.271G>C | XP_011528502.1:p.Val91Leu | |
| XM_011530200.2:c.271G>C | XP_011528502.1:p.Val91Leu | |
| NM_021076.4:c.271G>C MANE Select | NP_066554.2:p.Val91Leu |