Linked Data
dbSNP Id:
rs545114678
ExAC:
4:69535991 A / G
gnomAD v2:
4-69535991-A-G
gnomAD v3:
4-68670273-A-G
gnomAD v4:
4-68670273-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670273A>G , CM000666.2:g.68670273A>G | GRCh38 |
| NC_000004.11:g.69535991A>G , CM000666.1:g.69535991A>G | GRCh37 |
| NC_000004.10:g.69218586A>G | NCBI36 |
| NG_052676.1:g.5504T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338206.6:c.346T>C MANE Select | ENSP00000341045.5:p.Leu116= | |
| ENST00000338206.5:c.346T>C | ENSP00000341045.5:p.Leu116= | |
| ENST00000616841.4:c.346T>C | ENSP00000482004.1:p.Leu116= | |
| NM_001076.3:c.346T>C | NP_001067.2:p.Leu116= | |
| NM_001076.4:c.346T>C MANE Select | NP_001067.2:p.Leu116= |