Linked Data
ClinVar Variation Id:
1451393
dbSNP Id:
rs759043037
ExAC:
5:33947356 A / G
gnomAD v2:
5-33947356-A-G
gnomAD v3:
5-33947251-A-G
gnomAD v4:
5-33947251-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33947251A>G , CM000667.2:g.33947251A>G | GRCh38 |
| NC_000005.9:g.33947356A>G , CM000667.1:g.33947356A>G | GRCh37 |
| NC_000005.8:g.33983113A>G | NCBI36 |
| NG_011691.2:g.42425T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1280T>C MANE Select | ENSP00000296589.4:p.Leu427Pro | |
| ENST00000296589.8:c.1280T>C | ENSP00000296589.4:p.Leu427Pro | |
| ENST00000382102.7:c.1280T>C | ENSP00000371534.3:p.Leu427Pro | |
| NM_001012509.3:c.1280T>C | NP_001012527.1:p.Leu427Pro | |
| NM_016180.4:c.1280T>C | NP_057264.3:p.Leu427Pro | |
| XM_011514051.1:c.878T>C | XP_011512353.1:p.Leu293Pro | |
| NM_016180.5:c.1280T>C MANE Select | NP_057264.4:p.Leu427Pro | |
| NM_001012509.4:c.1280T>C | NP_001012527.2:p.Leu427Pro |