Linked Data
ClinVar Variation Id:
3131189
ClinVar RCV Id:
RCV004425569
dbSNP Id:
rs1829957941
gnomAD v3:
9-35105757-A-G
gnomAD v4:
9-35105757-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35105757A>G , CM000671.2:g.35105757A>G | GRCh38 |
| NC_000009.11:g.35105754A>G , CM000671.1:g.35105754A>G | GRCh37 |
| NC_000009.10:g.35095754A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322813.10:c.1388T>C MANE Select | ENSP00000319897.5:p.Leu463Pro | |
| ENST00000322813.9:c.1388T>C | ENSP00000319897.5:p.Leu463Pro | |
| ENST00000378557.1:c.1388T>C | ENSP00000367819.1:p.Leu463Pro | |
| ENST00000378561.5:c.1388T>C | ENSP00000367823.1:p.Leu463Pro | |
| ENST00000378566.5:c.473T>C | ENSP00000367829.1:p.Leu158Pro | |
| ENST00000488109.6:c.1388T>C | ENSP00000475120.1:p.Leu463Pro | |
| ENST00000603301.5:c.1388T>C | ENSP00000474335.1:p.Leu463Pro | |
| ENST00000605244.5:c.1388T>C | ENSP00000474833.1:p.Leu463Pro | |
| NM_025182.2:c.1388T>C | NP_079458.2:p.Leu463Pro | |
| XM_005251588.1:c.1388T>C | XP_005251645.1:p.Leu463Pro | |
| XM_005251589.1:c.1388T>C | XP_005251646.1:p.Leu463Pro | |
| XM_005251590.1:c.1388T>C | XP_005251647.1:p.Leu463Pro | |
| XM_005251591.1:c.1388T>C | XP_005251648.1:p.Leu463Pro | |
| XM_005251592.1:c.797T>C | XP_005251649.1:p.Leu266Pro | |
| XM_005251593.1:c.797T>C | XP_005251650.1:p.Leu266Pro | |
| XM_005251594.1:c.797T>C | XP_005251651.1:p.Leu266Pro | |
| XM_005251596.3:c.797T>C | XP_005251653.1:p.Leu266Pro | |
| XM_005251597.3:c.797T>C | XP_005251654.1:p.Leu266Pro | |
| XM_005251598.3:c.797T>C | XP_005251655.1:p.Leu266Pro | |
| XM_011518037.1:c.1388T>C | XP_011516339.1:p.Leu463Pro | |
| XM_011518038.1:c.1388T>C | XP_011516340.1:p.Leu463Pro | |
| XM_011518039.1:c.1319T>C | XP_011516341.1:p.Leu440Pro | |
| XM_011518040.1:c.1274T>C | XP_011516342.1:p.Leu425Pro | |
| XM_011518041.1:c.797T>C | XP_011516343.1:p.Leu266Pro | |
| XM_011518042.1:c.473T>C | XP_011516344.1:p.Leu158Pro | |
| XM_011518043.1:c.473T>C | XP_011516345.1:p.Leu158Pro | |
| XM_011518044.1:c.473T>C | XP_011516346.1:p.Leu158Pro | |
| NM_001317991.1:c.1388T>C | NP_001304920.1:p.Leu463Pro | |
| NM_025182.3:c.1388T>C | NP_079458.2:p.Leu463Pro | |
| NR_134455.1:n.1350T>C | ||
| XM_024447689.1:c.1388T>C | XP_024303457.1:p.Leu463Pro | |
| NM_001317991.2:c.1388T>C | NP_001304920.1:p.Leu463Pro | |
| NM_025182.4:c.1388T>C MANE Select | NP_079458.2:p.Leu463Pro | |
| NR_134455.2:n.1240T>C |