Linked Data
ClinVar Variation Id:
1935108
ClinVar RCV Id:
RCV002638902
dbSNP Id:
rs368746835
ExAC:
6:112457380 A / G
gnomAD v2:
6-112457380-A-G
gnomAD v3:
6-112136178-A-G
gnomAD v4:
6-112136178-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112136178A>G , CM000668.2:g.112136178A>G | GRCh38 |
| NC_000006.11:g.112457380A>G , CM000668.1:g.112457380A>G | GRCh37 |
| NC_000006.10:g.112564073A>G | NCBI36 |
| NG_008209.1:g.123449T>C , LRG_433:g.123449T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230538.12:c.3359T>C MANE Select | ENSP00000230538.7:p.Val1120Ala | |
| ENST00000389463.9:c.3338T>C | ENSP00000374114.4:p.Val1113Ala | |
| ENST00000651860.1:c.1229T>C | ENSP00000498842.1:p.Val410Ala | |
| ENST00000230538.11:c.3359T>C | ENSP00000230538.7:p.Val1120Ala | |
| ENST00000389463.8:c.3338T>C | ENSP00000374114.4:p.Val1113Ala | |
| ENST00000424408.6:c.3338T>C | ENSP00000416470.2:p.Val1113Ala | |
| ENST00000519245.1:n.234T>C | ||
| ENST00000522006.5:c.3338T>C | ENSP00000429488.1:p.Val1113Ala | |
| NM_001105206.2:c.3359T>C | NP_001098676.2:p.Val1120Ala | |
| NM_001105207.2:c.3338T>C | NP_001098677.2:p.Val1113Ala | |
| NM_002290.4:c.3338T>C | NP_002281.3:p.Val1113Ala | |
| XM_005266983.3:c.3359T>C | XP_005267040.2:p.Val1120Ala | |
| XM_005266984.3:c.3359T>C | XP_005267041.2:p.Val1120Ala | |
| XM_011535821.1:c.3359T>C | XP_011534123.1:p.Val1120Ala | |
| XM_005266983.4:c.3359T>C | XP_005267040.2:p.Val1120Ala | |
| XM_005266984.4:c.3359T>C | XP_005267041.2:p.Val1120Ala | |
| XM_017010854.2:c.3338T>C | XP_016866343.1:p.Val1113Ala | |
| XR_001743406.2:n.3630T>C | ||
| XR_001743407.2:n.3609T>C | ||
| XR_001744299.1:n.429-19142A>G | ||
| NM_001105206.3:c.3359T>C MANE Select | NP_001098676.2:p.Val1120Ala | |
| NM_001105207.3:c.3338T>C | NP_001098677.2:p.Val1113Ala | |
| NM_002290.5:c.3338T>C | NP_002281.3:p.Val1113Ala |