Linked Data
ClinVar Variation Id:
528069
ClinVar RCV Id:
RCV002234424
dbSNP Id:
rs1554810373
gnomAD v4:
9-127825711-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127825711G>C , CM000671.2:g.127825711G>C | GRCh38 |
| NC_000009.11:g.130587990G>C , CM000671.1:g.130587990G>C | GRCh37 |
| NC_000009.10:g.129627811G>C | NCBI36 |
| NG_009551.1:g.34058C>G , LRG_589:g.34058C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480266.6:c.127C>G | ENSP00000479015.1:p.Pro43Ala | |
| ENST00000373203.9:c.673C>G MANE Select | ENSP00000362299.4:p.Pro225Ala | |
| ENST00000344849.4:c.673C>G | ENSP00000341917.3:p.Pro225Ala | |
| ENST00000373203.8:c.673C>G | ENSP00000362299.4:p.Pro225Ala | |
| ENST00000480266.5:c.127C>G | ENSP00000479015.1:p.Pro43Ala | |
| NM_000118.3:c.673C>G , LRG_589t1:c.673C>G | NP_000109.1:p.Pro225Ala | |
| NM_001114753.2:c.673C>G , LRG_589t2:c.673C>G | NP_001108225.1:p.Pro225Ala | |
| NM_001278138.1:c.127C>G | NP_001265067.1:p.Pro43Ala | |
| XR_001746952.2:n.82+253G>C | ||
| NM_001114753.3:c.673C>G MANE Select | NP_001108225.1:p.Pro225Ala | |
| NM_001278138.2:c.127C>G | NP_001265067.1:p.Pro43Ala |