Linked Data
ClinVar Variation Id:
2852041
ClinVar RCV Id:
RCV003608946
gnomAD v4:
9-34648396-T-C
MyVariant Identifiers:
chr9:g.34648393T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648396T>C , CM000671.2:g.34648396T>C | GRCh38 |
| NC_000009.11:g.34648393T>C , CM000671.1:g.34648393T>C | GRCh37 |
| NC_000009.10:g.34638393T>C | NCBI36 |
| NG_009029.1:g.6759T>C | |
| NG_028966.1:g.1212T>C | |
| NG_009029.2:g.6808T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*215T>C | ENSP00000509954.1:n.*215T>C | |
| ENST00000378842.8:c.627T>C MANE Select | ENSP00000368119.4:p.Tyr209= | |
| ENST00000378842.7:c.627T>C | ENSP00000368119.3:p.Tyr209= | |
| ENST00000450095.6:c.300T>C | ENSP00000401956.2:p.Tyr100= | |
| ENST00000472111.5:n.883T>C | ||
| ENST00000473506.6:c.*215T>C | ENSP00000432839.2:n.*215T>C | |
| ENST00000473529.5:n.786T>C | ||
| ENST00000487381.5:n.1012T>C | ||
| ENST00000489643.6:n.402T>C | ||
| ENST00000554085.5:c.*371T>C | ENSP00000450419.1:n.*371T>C | |
| ENST00000554550.5:c.*247T>C | ENSP00000451435.1:n.*247T>C | |
| ENST00000554638.5:n.1099T>C | ||
| ENST00000555020.5:n.783T>C | ||
| ENST00000555086.5:n.631T>C | ||
| ENST00000555214.5:n.448T>C | ||
| ENST00000556244.1:c.614T>C | ||
| ENST00000556278.1:c.372T>C | ENSP00000451792.1:p.Tyr124= | |
| ENST00000556494.5:n.748T>C | ||
| ENST00000557706.5:n.1189T>C | ||
| NM_000155.3:c.627T>C | NP_000146.2:p.Tyr209= | |
| NM_001258332.1:c.300T>C | NP_001245261.1:p.Tyr100= | |
| NM_000155.4:c.627T>C MANE Select | NP_000146.2:p.Tyr209= | |
| NM_001258332.2:c.300T>C | NP_001245261.1:p.Tyr100= |