Linked Data
ClinVar Variation Id:
25233
ClinVar RCV Id:
RCV000022169
dbSNP Id:
rs367543260
gnomAD v4:
9-34648399-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648399G>A , CM000671.2:g.34648399G>A | GRCh38 |
| NC_000009.11:g.34648396G>A , CM000671.1:g.34648396G>A | GRCh37 |
| NC_000009.10:g.34638396G>A | NCBI36 |
| NG_009029.1:g.6762G>A | |
| NG_028966.1:g.1215G>A | |
| NG_009029.2:g.6811G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*218G>A | ENSP00000509954.1:n.*218G>A | |
| ENST00000378842.8:c.630G>A MANE Select | ENSP00000368119.4:p.Lys210= | |
| ENST00000378842.7:c.630G>A | ENSP00000368119.3:p.Lys210= | |
| ENST00000450095.6:c.303G>A | ENSP00000401956.2:p.Lys101= | |
| ENST00000472111.5:n.886G>A | ||
| ENST00000473506.6:c.*218G>A | ENSP00000432839.2:n.*218G>A | |
| ENST00000473529.5:n.789G>A | ||
| ENST00000487381.5:n.1015G>A | ||
| ENST00000489643.6:n.405G>A | ||
| ENST00000554085.5:c.*374G>A | ENSP00000450419.1:n.*374G>A | |
| ENST00000554550.5:c.*250G>A | ENSP00000451435.1:n.*250G>A | |
| ENST00000554638.5:n.1102G>A | ||
| ENST00000555020.5:n.786G>A | ||
| ENST00000555086.5:n.634G>A | ||
| ENST00000555214.5:n.451G>A | ||
| ENST00000556244.1:c.617G>A | ||
| ENST00000556278.1:c.375G>A | ENSP00000451792.1:p.Lys125= | |
| ENST00000556494.5:n.751G>A | ||
| ENST00000557706.5:n.1192G>A | ||
| NM_000155.3:c.630G>A | NP_000146.2:p.Lys210= | |
| NM_001258332.1:c.303G>A | NP_001245261.1:p.Lys101= | |
| NM_000155.4:c.630G>A MANE Select | NP_000146.2:p.Lys210= | |
| NM_001258332.2:c.303G>A | NP_001245261.1:p.Lys101= |