Linked Data
ClinVar Variation Id:
1986262
ClinVar RCV Id:
RCV002786048
dbSNP Id:
rs1386882545
gnomAD v2:
9-133748308-C-A
gnomAD v3:
9-130872921-C-A
gnomAD v4:
9-130872921-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872921C>A , CM000671.2:g.130872921C>A | GRCh38 |
| NC_000009.11:g.133748308C>A , CM000671.1:g.133748308C>A | GRCh37 |
| NC_000009.10:g.132738129C>A | NCBI36 |
| NG_012034.1:g.164041C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372348.9:c.1026C>A | ENSP00000361423.2:p.Leu342= | |
| ENST00000318560.6:c.969C>A MANE Select | ENSP00000323315.5:p.Leu323= | |
| ENST00000372348.7:c.1026C>A | ENSP00000361423.2:p.Leu342= | |
| ENST00000318560.5:c.969C>A | ENSP00000323315.5:p.Leu323= | |
| ENST00000372348.6:c.1026C>A | ENSP00000361423.2:p.Leu342= | |
| NM_005157.5:c.969C>A | NP_005148.2:p.Leu323= | |
| NM_007313.2:c.1026C>A | NP_009297.2:p.Leu342= | |
| NM_005157.6:c.969C>A MANE Select | NP_005148.2:p.Leu323= | |
| NM_007313.3:c.1026C>A | NP_009297.2:p.Leu342= |