Linked Data
ClinVar Variation Id:
2470
dbSNP Id:
rs121918282
ExAC:
11:123524481 A / G
gnomAD v2:
11-123524481-A-G
gnomAD v3:
11-123653773-A-G
gnomAD v4:
11-123653773-A-G
COSMIC:
COSM145911
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123653773A>G , CM000673.2:g.123653773A>G | GRCh38 |
| NC_000011.9:g.123524481A>G , CM000673.1:g.123524481A>G | GRCh37 |
| NC_000011.8:g.123029691A>G | NCBI36 |
| NG_016283.1:g.5835T>C , LRG_421:g.5835T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299333.8:c.29T>C MANE Select | ENSP00000299333.3:p.Leu10Pro | |
| ENST00000657123.1:c.29T>C | ENSP00000499439.1:p.Leu10Pro | |
| ENST00000657191.1:c.29T>C | ENSP00000499755.1:p.Leu10Pro | |
| ENST00000667790.1:c.29T>C | ENSP00000499234.1:p.Leu10Pro | |
| ENST00000299333.7:c.29T>C | ENSP00000299333.3:p.Leu10Pro | |
| ENST00000392770.6:c.29T>C | ENSP00000376523.2:p.Leu10Pro | |
| ENST00000527836.5:c.29T>C | ENSP00000435554.1:p.Leu10Pro | |
| ENST00000528267.1:c.29T>C | ENSP00000434363.1:p.Leu10Pro | |
| ENST00000530277.5:c.29T>C | ENSP00000432785.1:p.Leu10Pro | |
| NM_001040151.1:c.29T>C | NP_001035241.1:p.Leu10Pro | |
| NM_018400.3:c.29T>C , LRG_421t1:c.29T>C | NP_060870.1:p.Leu10Pro | |
| XM_011542897.1:c.29T>C | XP_011541199.1:p.Leu10Pro | |
| XR_947858.1:n.436T>C | ||
| XM_011542897.2:c.29T>C | XP_011541199.1:p.Leu10Pro | |
| XR_948124.3:n.2046A>G | ||
| NM_001040151.2:c.29T>C MANE Select | NP_001035241.1:p.Leu10Pro | |
| NM_018400.4:c.29T>C | NP_060870.1:p.Leu10Pro |