Linked Data
dbSNP Id:
rs994136015
gnomAD v3:
9-133352472-T-G
gnomAD v4:
9-133352472-T-G
MyVariant Identifiers:
chr9:g.133352472T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352472T>G , CM000671.2:g.133352472T>G | GRCh38 |
| NC_000009.10:g.135209148T>G | NCBI36 |
| NG_008477.1:g.9035A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.725A>C MANE Select | ENSP00000361042.3:p.Glu242Ala | |
| ENST00000371974.7:c.725A>C | ENSP00000361042.3:p.Glu242Ala | |
| ENST00000437995.1:n.635A>C | ||
| ENST00000495952.5:n.715A>C | ||
| ENST00000615505.4:c.398A>C | ENSP00000482067.1:p.Glu133Ala | |
| NM_001280787.1:c.398A>C | NP_001267716.1:p.Glu133Ala | |
| NM_003172.3:c.725A>C | NP_003163.1:p.Glu242Ala | |
| XM_011518942.1:c.398A>C | XP_011517244.1:p.Glu133Ala | |
| NM_003172.4:c.725A>C MANE Select | NP_003163.1:p.Glu242Ala |