Linked Data
ClinVar Variation Id:
291822
dbSNP Id:
rs140612649
ExAC:
1:11333886 T / G
gnomAD v2:
1-11333886-T-G
gnomAD v3:
1-11273829-T-G
gnomAD v4:
1-11273829-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11273829T>G , CM000663.2:g.11273829T>G | GRCh38 |
| NC_000001.10:g.11333886T>G , CM000663.1:g.11333886T>G | GRCh37 |
| NC_000001.9:g.11256473T>G | NCBI36 |
| NG_009443.1:g.5632T>G | |
| NG_009443.2:g.5632T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376810.6:c.298T>G MANE Select | ENSP00000366006.5:p.Leu100Val | |
| ENST00000376804.2:c.298T>G | ENSP00000366000.1:p.Leu100Val | |
| ENST00000376810.5:c.298T>G | ENSP00000366006.5:p.Leu100Val | |
| NM_013319.2:c.298T>G | NP_037451.1:p.Leu100Val | |
| XM_006710590.2:c.298T>G | XP_006710653.1:p.Leu100Val | |
| XM_011541304.1:c.298T>G | XP_011539606.1:p.Leu100Val | |
| XR_946616.1:n.632T>G | ||
| NM_001330349.1:c.298T>G | NP_001317278.1:p.Leu100Val | |
| NM_001330350.1:c.298T>G | NP_001317279.1:p.Leu100Val | |
| XR_946616.3:n.632T>G | ||
| NM_001330349.2:c.298T>G | NP_001317278.1:p.Leu100Val | |
| NM_001330350.2:c.298T>G | NP_001317279.1:p.Leu100Val | |
| NM_013319.3:c.298T>G MANE Select | NP_037451.1:p.Leu100Val |