Linked Data
ClinVar Variation Id:
1430796
ClinVar RCV Id:
RCV001948439
dbSNP Id:
rs1682491108
gnomAD v4:
2-127642170-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127642170A>G , CM000664.2:g.127642170A>G | GRCh38 |
| NC_000002.11:g.128399745A>G , CM000664.1:g.128399745A>G | GRCh37 |
| NC_000002.10:g.128116215A>G | NCBI36 |
| NG_042235.1:g.44617T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355119.9:c.539T>C MANE Select | ENSP00000347240.4:p.Leu180Pro | |
| ENST00000324938.9:c.611T>C | ENSP00000326888.5:p.Leu204Pro | |
| ENST00000355119.8:c.539T>C | ENSP00000347240.4:p.Leu180Pro | |
| ENST00000409254.1:c.83T>C | ENSP00000386907.1:p.Leu28Pro | |
| ENST00000409286.5:c.83T>C | ENSP00000386252.1:p.Leu28Pro | |
| ENST00000409455.5:c.524T>C | ENSP00000386383.1:p.Leu175Pro | |
| ENST00000409754.5:c.83T>C | ENSP00000386345.1:p.Leu28Pro | |
| ENST00000409808.6:c.524T>C | ENSP00000386637.2:p.Leu175Pro | |
| ENST00000410011.5:c.524T>C | ENSP00000387002.1:p.Leu175Pro | |
| ENST00000410038.5:c.83T>C | ENSP00000386570.1:p.Leu28Pro | |
| ENST00000413578.5:c.53+753T>C | ENSP00000388611.1:n.53+753T>C | |
| ENST00000466410.5:n.675T>C | ||
| ENST00000469300.6:n.2280T>C | ||
| ENST00000476932.5:n.927T>C | ||
| ENST00000484252.5:n.182T>C | ||
| ENST00000545738.6:c.605T>C | ENSP00000443794.2:p.Leu202Pro | |
| ENST00000582671.1:n.486T>C | ||
| ENST00000612860.4:c.263T>C | ENSP00000484949.1:p.Leu88Pro | |
| NM_001136037.2:c.605T>C | NP_001129509.2:p.Leu202Pro | |
| NM_001161403.1:c.539T>C | NP_001154875.1:p.Leu180Pro | |
| NM_001161404.1:c.524T>C | NP_001154876.1:p.Leu175Pro | |
| NM_001256542.1:c.83T>C | NP_001243471.1:p.Leu28Pro | |
| NM_017980.4:c.611T>C | NP_060450.2:p.Leu204Pro | |
| XM_005263709.2:c.524T>C | XP_005263766.1:p.Leu175Pro | |
| XM_005263710.2:c.332T>C | XP_005263767.1:p.Leu111Pro | |
| XM_006712627.2:c.191T>C | XP_006712690.1:p.Leu64Pro | |
| XM_011511453.1:c.581+753T>C | XP_011509755.1:n.581+753T>C | |
| XR_922961.1:n.675T>C | ||
| XM_006712627.4:c.191T>C | XP_006712690.1:p.Leu64Pro | |
| XM_024452983.1:c.524T>C | XP_024308751.1:p.Leu175Pro | |
| XM_024452984.1:c.524T>C | XP_024308752.1:p.Leu175Pro | |
| XM_024452985.1:c.83T>C | XP_024308753.1:p.Leu28Pro | |
| XM_024452986.1:c.83T>C | XP_024308754.1:p.Leu28Pro | |
| XR_922961.2:n.675T>C | ||
| NM_001136037.3:c.605T>C | NP_001129509.2:p.Leu202Pro | |
| NM_001161403.2:c.539T>C | NP_001154875.1:p.Leu180Pro | |
| NM_001136037.4:c.605T>C | NP_001129509.2:p.Leu202Pro | |
| NM_001161403.3:c.539T>C MANE Select | NP_001154875.1:p.Leu180Pro | |
| NM_001161404.2:c.524T>C | NP_001154876.1:p.Leu175Pro | |
| NM_001256542.2:c.83T>C | NP_001243471.1:p.Leu28Pro | |
| NM_017980.5:c.611T>C | NP_060450.2:p.Leu204Pro |