Linked Data
dbSNP Id:
rs111033804
gnomAD v3:
9-34649494-C-T
gnomAD v4:
9-34649494-C-T
PubMed:
PMID:8598637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649494C>T , CM000671.2:g.34649494C>T | GRCh38 |
| NC_000009.11:g.34649491C>T , CM000671.1:g.34649491C>T | GRCh37 |
| NC_000009.10:g.34639491C>T | NCBI36 |
| NG_009029.1:g.7857C>T | |
| NG_028966.1:g.2310C>T | |
| NG_009029.2:g.7906C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*577C>T | ENSP00000509954.1:n.*577C>T | |
| ENST00000378842.8:c.989C>T MANE Select | ENSP00000368119.4:p.Ala330Val | |
| ENST00000378842.7:c.989C>T | ENSP00000368119.3:p.Ala330Val | |
| ENST00000450095.6:c.662C>T | ENSP00000401956.2:p.Ala221Val | |
| ENST00000488412.2:n.573C>T | ||
| ENST00000489643.6:n.1397C>T | ||
| ENST00000554550.5:c.*609C>T | ENSP00000451435.1:n.*609C>T | |
| ENST00000554638.5:n.1461C>T | ||
| ENST00000555020.5:n.1778C>T | ||
| ENST00000555754.1:n.437C>T | ||
| ENST00000556278.1:c.432+1038C>T | ENSP00000451792.1:n.432+1038C>T | |
| ENST00000557706.5:n.1564C>T | ||
| NM_000155.3:c.989C>T | NP_000146.2:p.Ala330Val | |
| NM_001258332.1:c.662C>T | NP_001245261.1:p.Ala221Val | |
| NM_000155.4:c.989C>T MANE Select | NP_000146.2:p.Ala330Val | |
| NM_001258332.2:c.662C>T | NP_001245261.1:p.Ala221Val |