Linked Data
ClinVar Variation Id:
1410598
ClinVar RCV Id:
RCV001928116
gnomAD v4:
9-133352450-G-T
MyVariant Identifiers:
chr9:g.133352450G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352450G>T , CM000671.2:g.133352450G>T | GRCh38 |
| NC_000009.10:g.135209126G>T | NCBI36 |
| NG_008477.1:g.9057C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.747C>A MANE Select | ENSP00000361042.3:p.Asn249Lys | |
| ENST00000371974.7:c.747C>A | ENSP00000361042.3:p.Asn249Lys | |
| ENST00000437995.1:n.657C>A | ||
| ENST00000495952.5:n.737C>A | ||
| ENST00000615505.4:c.420C>A | ENSP00000482067.1:p.Asn140Lys | |
| NM_001280787.1:c.420C>A | NP_001267716.1:p.Asn140Lys | |
| NM_003172.3:c.747C>A | NP_003163.1:p.Asn249Lys | |
| XM_011518942.1:c.420C>A | XP_011517244.1:p.Asn140Lys | |
| NM_003172.4:c.747C>A MANE Select | NP_003163.1:p.Asn249Lys |