Linked Data
ClinVar Variation Id:
488160
ClinVar RCV Id:
RCV000578048
RCV000578098
RCV000578116
RCV000577985
RCV000578042
RCV000951026
RCV003159972
dbSNP Id:
rs547323858
ExAC:
6:112454047 T / C
gnomAD v2:
6-112454047-T-C
gnomAD v3:
6-112132845-T-C
gnomAD v4:
6-112132845-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112132845T>C , CM000668.2:g.112132845T>C | GRCh38 |
| NC_000006.11:g.112454047T>C , CM000668.1:g.112454047T>C | GRCh37 |
| NC_000006.10:g.112560740T>C | NCBI36 |
| NG_008209.1:g.126782A>G , LRG_433:g.126782A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230538.12:c.3742A>G MANE Select | ENSP00000230538.7:p.Ile1248Val | |
| ENST00000389463.9:c.3721A>G | ENSP00000374114.4:p.Ile1241Val | |
| ENST00000651860.1:c.1612A>G | ENSP00000498842.1:p.Ile538Val | |
| ENST00000230538.11:c.3742A>G | ENSP00000230538.7:p.Ile1248Val | |
| ENST00000389463.8:c.3721A>G | ENSP00000374114.4:p.Ile1241Val | |
| ENST00000424408.6:c.3721A>G | ENSP00000416470.2:p.Ile1241Val | |
| ENST00000522006.5:c.3721A>G | ENSP00000429488.1:p.Ile1241Val | |
| NM_001105206.2:c.3742A>G | NP_001098676.2:p.Ile1248Val | |
| NM_001105207.2:c.3721A>G | NP_001098677.2:p.Ile1241Val | |
| NM_002290.4:c.3721A>G | NP_002281.3:p.Ile1241Val | |
| XM_005266983.3:c.3742A>G | XP_005267040.2:p.Ile1248Val | |
| XM_005266984.3:c.3742A>G | XP_005267041.2:p.Ile1248Val | |
| XM_011535821.1:c.3742A>G | XP_011534123.1:p.Ile1248Val | |
| XM_005266983.4:c.3742A>G | XP_005267040.2:p.Ile1248Val | |
| XM_005266984.4:c.3742A>G | XP_005267041.2:p.Ile1248Val | |
| XM_017010854.2:c.3721A>G | XP_016866343.1:p.Ile1241Val | |
| XR_001743406.2:n.4013A>G | ||
| XR_001743407.2:n.3992A>G | ||
| XR_001744299.1:n.428+16418T>C | ||
| NM_001105206.3:c.3742A>G MANE Select | NP_001098676.2:p.Ile1248Val | |
| NM_001105207.3:c.3721A>G | NP_001098677.2:p.Ile1241Val | |
| NM_002290.5:c.3721A>G | NP_002281.3:p.Ile1241Val |