Linked Data
ClinVar Variation Id:
238111
dbSNP Id:
rs878854127
gnomAD v2:
3-10191548-G-A
gnomAD v4:
3-10149864-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149864G>A , CM000665.2:g.10149864G>A | GRCh38 |
| NC_000003.11:g.10191548G>A , CM000665.1:g.10191548G>A | GRCh37 |
| NC_000003.10:g.10166548G>A | NCBI36 |
| NG_008212.3:g.13230G>A , LRG_322:g.13230G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*218G>A | ENSP00000512434.1:n.*218G>A | |
| ENST00000696143.1:c.677G>A | ENSP00000512435.1:n.677G>A | |
| ENST00000696153.1:c.652G>A | ENSP00000512444.1:p.Val218Ile | |
| ENST00000256474.3:c.541G>A MANE Select | ENSP00000256474.3:p.Val181Ile | |
| ENST00000256474.2:c.541G>A | ENSP00000256474.2:p.Val181Ile | |
| ENST00000345392.2:c.418G>A | ENSP00000344757.2:p.Val140Ile | |
| ENST00000477538.1:n.677G>A | ||
| NM_000551.3:c.541G>A , LRG_322t1:c.541G>A | NP_000542.1:p.Val181Ile | |
| NM_198156.2:c.418G>A | NP_937799.1:p.Val140Ile | |
| NM_001354723.1:c.*95G>A | NP_001341652.1:n.*95G>A | |
| NM_000551.4:c.541G>A MANE Select | NP_000542.1:p.Val181Ile | |
| NM_001354723.2:c.*95G>A | NP_001341652.1:n.*95G>A | |
| NM_198156.3:c.418G>A | NP_937799.1:p.Val140Ile |