Linked Data
ClinVar Variation Id:
1909733
ClinVar RCV Id:
RCV002600413
dbSNP Id:
rs747050528
ExAC:
2:29296376 A / G
gnomAD v2:
2-29296376-A-G
gnomAD v3:
2-29073510-A-G
gnomAD v4:
2-29073510-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29073510A>G , CM000664.2:g.29073510A>G | GRCh38 |
| NC_000002.11:g.29296376A>G , CM000664.1:g.29296376A>G | GRCh37 |
| NC_000002.10:g.29149880A>G | NCBI36 |
| NG_021427.1:g.5752T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.752T>C MANE Select | ENSP00000332809.4:p.Leu251Pro | |
| ENST00000331664.5:c.752T>C | ENSP00000332809.4:p.Leu251Pro | |
| NM_001029883.2:c.752T>C | NP_001025054.1:p.Leu251Pro | |
| XM_011532826.1:c.752T>C | XP_011531128.1:p.Leu251Pro | |
| XR_939901.1:n.185+4343A>G | ||
| XR_939902.1:n.173+4355A>G | ||
| NM_001029883.3:c.752T>C MANE Select | NP_001025054.1:p.Leu251Pro |