Linked Data
ClinVar Variation Id:
859800
ClinVar RCV Id:
RCV001065990
dbSNP Id:
rs906515882
gnomAD v4:
2-29073029-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29073029G>C , CM000664.2:g.29073029G>C | GRCh38 |
| NC_000002.11:g.29295895G>C , CM000664.1:g.29295895G>C | GRCh37 |
| NC_000002.10:g.29149399G>C | NCBI36 |
| NG_021427.1:g.6233C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.1233C>G MANE Select | ENSP00000332809.4:p.Asp411Glu | |
| ENST00000331664.5:c.1233C>G | ENSP00000332809.4:p.Asp411Glu | |
| NM_001029883.2:c.1233C>G | NP_001025054.1:p.Asp411Glu | |
| XM_011532826.1:c.1233C>G | XP_011531128.1:p.Asp411Glu | |
| XR_939901.1:n.185+3862G>C | ||
| XR_939902.1:n.173+3874G>C | ||
| NM_001029883.3:c.1233C>G MANE Select | NP_001025054.1:p.Asp411Glu |