Linked Data
ClinVar Variation Id:
1357715
ClinVar RCV Id:
RCV001878438
dbSNP Id:
rs367767966
ExAC:
9:133748269 G / A
gnomAD v2:
9-133748269-G-A
gnomAD v3:
9-130872882-G-A
gnomAD v4:
9-130872882-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872882G>A , CM000671.2:g.130872882G>A | GRCh38 |
| NC_000009.11:g.133748269G>A , CM000671.1:g.133748269G>A | GRCh37 |
| NC_000009.10:g.132738090G>A | NCBI36 |
| NG_012034.1:g.164002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.987G>A | ENSP00000361423.2:p.Pro329= | |
| ENST00000318560.6:c.930G>A MANE Select | ENSP00000323315.5:p.Pro310= | |
| ENST00000372348.7:c.987G>A | ENSP00000361423.2:p.Pro329= | |
| ENST00000318560.5:c.930G>A | ENSP00000323315.5:p.Pro310= | |
| ENST00000372348.6:c.987G>A | ENSP00000361423.2:p.Pro329= | |
| NM_005157.5:c.930G>A | NP_005148.2:p.Pro310= | |
| NM_007313.2:c.987G>A | NP_009297.2:p.Pro329= | |
| NM_005157.6:c.930G>A MANE Select | NP_005148.2:p.Pro310= | |
| NM_007313.3:c.987G>A | NP_009297.2:p.Pro329= |