Linked Data
dbSNP Id:
rs777348261
ExAC:
2:29293851 T / C
gnomAD v2:
2-29293851-T-C
gnomAD v4:
2-29070985-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29070985T>C , CM000664.2:g.29070985T>C | GRCh38 |
| NC_000002.11:g.29293851T>C , CM000664.1:g.29293851T>C | GRCh37 |
| NC_000002.10:g.29147355T>C | NCBI36 |
| NG_021427.1:g.8277A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3277A>G MANE Select | ENSP00000332809.4:p.Met1093Val | |
| ENST00000331664.5:c.3277A>G | ENSP00000332809.4:p.Met1093Val | |
| NM_001029883.2:c.3277A>G | NP_001025054.1:p.Met1093Val | |
| XM_011532826.1:c.3277A>G | XP_011531128.1:p.Met1093Val | |
| XR_939901.1:n.185+1818T>C | ||
| XR_939902.1:n.173+1830T>C | ||
| NM_001029883.3:c.3277A>G MANE Select | NP_001025054.1:p.Met1093Val |