Linked Data
ClinVar Variation Id:
1225464
ClinVar RCV Id:
RCV001611030
dbSNP Id:
rs1042717
ExAC:
5:148206646 G / A
gnomAD v2:
5-148206646-G-A
gnomAD v3:
5-148827083-G-A
gnomAD v4:
5-148827083-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827083G>A , CM000667.2:g.148827083G>A | GRCh38 |
| NC_000005.9:g.148206646G>A , CM000667.1:g.148206646G>A | GRCh37 |
| NC_000005.8:g.148186839G>A | NCBI36 |
| NG_016421.1:g.5491G>A | |
| NG_016421.2:g.5491G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305988.6:c.252G>A MANE Select | ENSP00000305372.4:p.Leu84= | |
| ENST00000305988.5:c.252G>A | ENSP00000305372.4:p.Leu84= | |
| NM_000024.5:c.252G>A | NP_000015.1:p.Leu84= | |
| NM_000024.6:c.252G>A MANE Select | NP_000015.2:p.Leu84= |