Linked Data
ClinVar Variation Id:
428574
ClinVar RCV Id:
RCV000492049
dbSNP Id:
rs1114167892
gnomAD v4:
21-44330298-A-G
PubMed:
PMID:26167768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44330298A>G , CM000683.2:g.44330298A>G | GRCh38 |
| NC_000021.8:g.45750181A>G , CM000683.1:g.45750181A>G | GRCh37 |
| NC_000021.7:g.44574609A>G | NCBI36 |
| NG_032952.1:g.14105T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000339818.9:c.671T>C MANE Select | ENSP00000344566.4:p.Leu224Pro | |
| ENST00000325223.7:c.668T>C | ENSP00000317302.7:p.Leu223Pro | |
| ENST00000339818.8:c.671T>C | ENSP00000344566.4:p.Leu224Pro | |
| ENST00000397956.7:c.1028T>C | ENSP00000381047.3:p.Leu343Pro | |
| ENST00000462742.1:n.4125T>C | ||
| ENST00000470196.5:n.247T>C | ||
| ENST00000496321.5:n.784T>C | ||
| NM_001271440.1:c.668T>C | NP_001258369.1:p.Leu223Pro | |
| NM_001271441.1:c.1028T>C | NP_001258370.1:p.Leu343Pro | |
| NM_001271442.1:c.545T>C | NP_001258371.1:p.Leu182Pro | |
| NM_004928.2:c.671T>C | NP_004919.1:p.Leu224Pro | |
| XM_006724051.2:c.746T>C | XP_006724114.1:p.Leu249Pro | |
| XM_006724052.2:c.743T>C | XP_006724115.1:p.Leu248Pro | |
| XM_006724053.2:c.347T>C | XP_006724116.1:p.Leu116Pro | |
| XR_937571.1:n.1231T>C | ||
| XM_006724051.3:c.746T>C | XP_006724114.1:p.Leu249Pro | |
| XM_006724053.3:c.347T>C | XP_006724116.1:p.Leu116Pro | |
| XM_017028470.1:c.872T>C | XP_016883959.1:p.Leu291Pro | |
| XM_017028471.1:c.620T>C | XP_016883960.1:p.Leu207Pro | |
| XM_017028472.1:c.344T>C | XP_016883961.1:p.Leu115Pro | |
| XR_937571.2:n.1238T>C | ||
| NM_004928.3:c.671T>C MANE Select | NP_004919.1:p.Leu224Pro | |
| NM_001271440.2:c.668T>C | NP_001258369.1:p.Leu223Pro | |
| NM_001271441.2:c.1028T>C | NP_001258370.1:p.Leu343Pro |