Linked Data
dbSNP Id:
rs2148415109
gnomAD v3:
2-29071147-G-A
gnomAD v4:
2-29071147-G-A
MyVariant Identifiers:
chr2:g.29294013G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071147G>A , CM000664.2:g.29071147G>A | GRCh38 |
| NC_000002.11:g.29294013G>A , CM000664.1:g.29294013G>A | GRCh37 |
| NC_000002.10:g.29147517G>A | NCBI36 |
| NG_021427.1:g.8115C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3115C>T MANE Select | ENSP00000332809.4:p.Leu1039= | |
| ENST00000331664.5:c.3115C>T | ENSP00000332809.4:p.Leu1039= | |
| NM_001029883.2:c.3115C>T | NP_001025054.1:p.Leu1039= | |
| XM_011532826.1:c.3115C>T | XP_011531128.1:p.Leu1039= | |
| XR_939901.1:n.185+1980G>A | ||
| XR_939902.1:n.173+1992G>A | ||
| NM_001029883.3:c.3115C>T MANE Select | NP_001025054.1:p.Leu1039= |