Linked Data
ClinVar Variation Id:
25285
ClinVar RCV Id:
RCV000022228
dbSNP Id:
rs111033783
gnomAD v2:
9-34649057-C-A
gnomAD v3:
9-34649060-C-A
gnomAD v4:
9-34649060-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649060C>A , CM000671.2:g.34649060C>A | GRCh38 |
| NC_000009.11:g.34649057C>A , CM000671.1:g.34649057C>A | GRCh37 |
| NC_000009.10:g.34639057C>A | NCBI36 |
| NG_009029.1:g.7423C>A | |
| NG_028966.1:g.1876C>A | |
| NG_009029.2:g.7472C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*471C>A | ENSP00000509954.1:n.*471C>A | |
| ENST00000378842.8:c.883C>A MANE Select | ENSP00000368119.4:p.Pro295Thr | |
| ENST00000378842.7:c.883C>A | ENSP00000368119.3:p.Pro295Thr | |
| ENST00000450095.6:c.556C>A | ENSP00000401956.2:p.Pro186Thr | |
| ENST00000488412.2:n.139C>A | ||
| ENST00000489643.6:n.963C>A | ||
| ENST00000554550.5:c.*503C>A | ENSP00000451435.1:n.*503C>A | |
| ENST00000554638.5:n.1355C>A | ||
| ENST00000555020.5:n.1344C>A | ||
| ENST00000555086.5:n.990C>A | ||
| ENST00000555754.1:n.331C>A | ||
| ENST00000556278.1:c.432+604C>A | ENSP00000451792.1:n.432+604C>A | |
| ENST00000557706.5:n.1458C>A | ||
| NM_000155.3:c.883C>A | NP_000146.2:p.Pro295Thr | |
| NM_001258332.1:c.556C>A | NP_001245261.1:p.Pro186Thr | |
| NM_000155.4:c.883C>A MANE Select | NP_000146.2:p.Pro295Thr | |
| NM_001258332.2:c.556C>A | NP_001245261.1:p.Pro186Thr |