Linked Data
ClinVar Variation Id:
8665
dbSNP Id:
rs28936678
ExAC:
11:17409199 A / G
gnomAD v2:
11-17409199-A-G
gnomAD v4:
11-17387652-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387652A>G , CM000673.2:g.17387652A>G | GRCh38 |
| NC_000011.9:g.17409199A>G , CM000673.1:g.17409199A>G | GRCh37 |
| NC_000011.8:g.17365775A>G | NCBI36 |
| NG_012446.1:g.6008T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000528992.2:c.212T>C | ENSP00000436479.2:p.Leu71Pro | |
| ENST00000682350.1:c.179T>C | ENSP00000508090.1:p.Leu60Pro | |
| ENST00000682764.1:c.179T>C | ENSP00000506780.1:p.Leu60Pro | |
| ENST00000339994.5:c.440T>C MANE Select | ENSP00000345708.4:p.Leu147Pro | |
| ENST00000339994.4:c.440T>C | ENSP00000345708.4:p.Leu147Pro | |
| ENST00000526912.1:c.179T>C | ENSP00000432729.1:p.Leu60Pro | |
| ENST00000528731.1:c.179T>C | ENSP00000434755.1:p.Leu60Pro | |
| ENST00000528992.1:c.457T>C | ||
| NM_000525.3:c.440T>C | NP_000516.3:p.Leu147Pro | |
| NM_001166290.1:c.179T>C | NP_001159762.1:p.Leu60Pro | |
| XM_006718226.2:c.179T>C | XP_006718289.1:p.Leu60Pro | |
| XR_930867.1:n.598T>C | ||
| XM_006718226.3:c.179T>C | XP_006718289.1:p.Leu60Pro | |
| XM_017017680.1:c.179T>C | XP_016873169.1:p.Leu60Pro | |
| NM_001166290.2:c.179T>C | NP_001159762.1:p.Leu60Pro | |
| NM_001377296.1:c.179T>C | NP_001364225.1:p.Leu60Pro | |
| NM_001377297.1:c.179T>C | NP_001364226.1:p.Leu60Pro | |
| NM_000525.4:c.440T>C MANE Select | NP_000516.3:p.Leu147Pro |