Linked Data
dbSNP Id:
rs2130008022
gnomAD v4:
9-133352572-G-C
MyVariant Identifiers:
chr9:g.133352572G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352572G>C , CM000671.2:g.133352572G>C | GRCh38 |
| NC_000009.10:g.135209248G>C | NCBI36 |
| NG_008477.1:g.8935C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.625C>G MANE Select | ENSP00000361042.3:p.Leu209Val | |
| ENST00000371974.7:c.625C>G | ENSP00000361042.3:p.Leu209Val | |
| ENST00000437995.1:n.535C>G | ||
| ENST00000495952.5:n.615C>G | ||
| ENST00000615505.4:c.298C>G | ENSP00000482067.1:p.Leu100Val | |
| NM_001280787.1:c.298C>G | NP_001267716.1:p.Leu100Val | |
| NM_003172.3:c.625C>G | NP_003163.1:p.Leu209Val | |
| XM_011518942.1:c.298C>G | XP_011517244.1:p.Leu100Val | |
| NM_003172.4:c.625C>G MANE Select | NP_003163.1:p.Leu209Val |