Linked Data
dbSNP Id:
rs2986017
ExAC:
10:105218252 A / G
gnomAD v2:
10-105218252-A-G
gnomAD v3:
10-103458495-A-G
gnomAD v4:
10-103458495-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103458495A>G , CM000672.2:g.103458495A>G | GRCh38 |
| NC_000010.10:g.105218252A>G , CM000672.1:g.105218252A>G | GRCh37 |
| NC_000010.9:g.105208242A>G | NCBI36 |
| NG_016855.1:g.5397T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329905.6:c.257T>C MANE Select | ENSP00000329926.6:p.Leu86Pro | |
| ENST00000329905.5:c.257T>C | ENSP00000329926.5:p.Leu86Pro | |
| NM_001001412.3:c.257T>C | NP_001001412.3:p.Leu86Pro | |
| NM_001001412.4:c.257T>C MANE Select | NP_001001412.3:p.Leu86Pro |