Linked Data
ClinVar Variation Id:
2331196
ClinVar RCV Id:
RCV004174848
dbSNP Id:
rs142927190
ExAC:
5:71015151 C / A
gnomAD v2:
5-71015151-C-A
gnomAD v3:
5-71719324-C-A
gnomAD v4:
5-71719324-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719324C>A , CM000667.2:g.71719324C>A | GRCh38 |
| NC_000005.9:g.71015151C>A , CM000667.1:g.71015151C>A | GRCh37 |
| NC_000005.8:g.71050907C>A | NCBI36 |
| NG_015988.1:g.5162C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.31C>A MANE Select | ENSP00000296777.4:p.Leu11Ile | |
| ENST00000296777.4:c.31C>A | ENSP00000296777.4:p.Leu11Ile | |
| NM_004291.3:c.31C>A | NP_004282.1:p.Leu11Ile | |
| NM_004291.4:c.31C>A MANE Select | NP_004282.1:p.Leu11Ile |