Linked Data
ClinVar Variation Id:
984561
ClinVar RCV Id:
RCV001264647
dbSNP Id:
rs1831276610
gnomAD v4:
9-130872881-C-T
COSMIC:
COSM6005484
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872881C>T , CM000671.2:g.130872881C>T | GRCh38 |
| NC_000009.11:g.133748268C>T , CM000671.1:g.133748268C>T | GRCh37 |
| NC_000009.10:g.132738089C>T | NCBI36 |
| NG_012034.1:g.164001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.986C>T | ENSP00000361423.2:p.Pro329Leu | |
| ENST00000318560.6:c.929C>T MANE Select | ENSP00000323315.5:p.Pro310Leu | |
| ENST00000372348.7:c.986C>T | ENSP00000361423.2:p.Pro329Leu | |
| ENST00000318560.5:c.929C>T | ENSP00000323315.5:p.Pro310Leu | |
| ENST00000372348.6:c.986C>T | ENSP00000361423.2:p.Pro329Leu | |
| NM_005157.5:c.929C>T | NP_005148.2:p.Pro310Leu | |
| NM_007313.2:c.986C>T | NP_009297.2:p.Pro329Leu | |
| NM_005157.6:c.929C>T MANE Select | NP_005148.2:p.Pro310Leu | |
| NM_007313.3:c.986C>T | NP_009297.2:p.Pro329Leu |