Linked Data
ClinVar Variation Id:
6311
ClinVar RCV Id:
RCV000006691
dbSNP Id:
rs121908653
gnomAD v4:
1-22142888-A-G
PubMed:
PMID:18182450
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22142888A>G , CM000663.2:g.22142888A>G | GRCh38 |
| NC_000001.10:g.22469381A>G , CM000663.1:g.22469381A>G | GRCh37 |
| NC_000001.9:g.22341968A>G | NCBI36 |
| NG_008974.1:g.5139T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290167.11:c.35T>C MANE Select | ENSP00000290167.5:p.Leu12Pro | |
| ENST00000290167.10:c.35T>C | ENSP00000290167.5:p.Leu12Pro | |
| ENST00000441048.1:c.-89+844T>C | ENSP00000388925.1:n.-89+844T>C | |
| NM_030761.4:c.35T>C | NP_110388.2:p.Leu12Pro | |
| XM_011541598.1:c.-89+844T>C | XP_011539900.1:n.-89+844T>C | |
| XR_947049.1:n.66A>G | ||
| XR_947050.1:n.53+1883A>G | ||
| XR_947053.1:n.66A>G | ||
| XR_947054.1:n.66A>G | ||
| XR_947055.1:n.66A>G | ||
| XM_011541598.2:c.-89+844T>C | XP_011539900.1:n.-89+844T>C | |
| NM_030761.5:c.35T>C MANE Select | NP_110388.2:p.Leu12Pro |