Linked Data
ClinVar Variation Id:
1048446
ClinVar RCV Id:
RCV001578547
dbSNP Id:
rs1418948853
gnomAD v2:
16-88908364-A-G
gnomAD v4:
16-88841956-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88841956A>G , CM000678.2:g.88841956A>G | GRCh38 |
| NC_000016.9:g.88908364A>G , CM000678.1:g.88908364A>G | GRCh37 |
| NC_000016.8:g.87435865A>G | NCBI36 |
| NG_008667.1:g.20011T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268695.10:c.260T>C MANE Select | ENSP00000268695.5:p.Leu87Pro | |
| ENST00000268695.9:c.260T>C | ENSP00000268695.5:p.Leu87Pro | |
| ENST00000562593.5:n.3669T>C | ||
| ENST00000562831.1:c.44T>C | ENSP00000455174.1:p.Leu15Pro | |
| ENST00000565364.1:n.395T>C | ||
| ENST00000567525.5:c.85T>C | ENSP00000454484.1:p.Ser29Pro | |
| ENST00000567779.1:n.90T>C | ||
| ENST00000568613.5:c.379T>C | ENSP00000457921.1:n.379T>C | |
| NM_000512.4:c.260T>C | NP_000503.1:p.Leu87Pro | |
| XM_005256301.2:c.260T>C | XP_005256358.1:p.Leu87Pro | |
| XM_005256302.1:c.278T>C | XP_005256359.1:p.Leu93Pro | |
| XM_011522982.1:c.278T>C | XP_011521284.1:p.Leu93Pro | |
| XM_011522984.1:c.278T>C | XP_011521286.1:p.Leu93Pro | |
| NM_001323543.1:c.-296T>C | NP_001310472.1:n.-296T>C | |
| NM_001323544.1:c.278T>C | NP_001310473.1:p.Leu93Pro | |
| XM_005256301.3:c.260T>C | XP_005256358.1:p.Leu87Pro | |
| XM_011522982.2:c.278T>C | XP_011521284.1:p.Leu93Pro | |
| XM_017023111.2:c.278T>C | XP_016878600.1:p.Leu93Pro | |
| XM_017023112.2:c.278T>C | XP_016878601.1:p.Leu93Pro | |
| XM_017023113.1:c.-296T>C | XP_016878602.1:n.-296T>C | |
| NM_000512.5:c.260T>C MANE Select | NP_000503.1:p.Leu87Pro | |
| NM_001323543.2:c.-296T>C | NP_001310472.1:n.-296T>C | |
| NM_001323544.2:c.278T>C | NP_001310473.1:p.Leu93Pro |