Linked Data
dbSNP Id:
rs774619638
ExAC:
11:9163533 T / C
gnomAD v2:
11-9163533-T-C
gnomAD v4:
11-9141986-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9141986T>C , CM000673.2:g.9141986T>C | GRCh38 |
| NC_000011.9:g.9163533T>C , CM000673.1:g.9163533T>C | GRCh37 |
| NC_000011.8:g.9120109T>C | NCBI36 |
| NG_053019.1:g.128350A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3634A>G MANE Select | ENSP00000328524.3:p.Ile1212Val | |
| ENST00000525784.6:n.1496A>G | ||
| ENST00000530780.2:c.*3460A>G | ENSP00000433925.1:n.*3460A>G | |
| ENST00000531747.2:n.3305A>G | ||
| ENST00000679446.1:n.3555A>G | ||
| ENST00000679458.1:n.5035A>G | ||
| ENST00000679460.1:n.4696A>G | ||
| ENST00000679568.1:c.3634A>G | ENSP00000505860.1:p.Ile1212Val | |
| ENST00000679745.1:n.4139A>G | ||
| ENST00000679773.1:n.2795A>G | ||
| ENST00000679926.1:n.4936A>G | ||
| ENST00000679999.1:c.*691A>G | ENSP00000505198.1:n.*691A>G | |
| ENST00000680252.1:c.3301A>G | ||
| ENST00000680294.1:c.3427A>G | ENSP00000506113.1:p.Ile1143Val | |
| ENST00000680358.1:n.2933A>G | ||
| ENST00000680470.1:c.*1415A>G | ENSP00000505975.1:n.*1415A>G | |
| ENST00000680554.1:c.*167A>G | ENSP00000505621.1:n.*167A>G | |
| ENST00000680576.1:n.5110A>G | ||
| ENST00000680599.1:n.3675A>G | ||
| ENST00000680742.1:c.*167A>G | ENSP00000505206.1:n.*167A>G | |
| ENST00000680791.1:n.2518A>G | ||
| ENST00000680885.1:n.5336A>G | ||
| ENST00000681158.1:c.3218A>G | ||
| ENST00000681203.1:c.3562A>G | ENSP00000506456.1:p.Ile1188Val | |
| ENST00000681371.1:n.3506A>G | ||
| ENST00000681425.1:n.4112A>G | ||
| ENST00000681639.1:n.1913A>G | ||
| ENST00000328194.7:c.3634A>G | ENSP00000328524.3:p.Ile1212Val | |
| ENST00000525784.5:c.570A>G | ||
| ENST00000527700.5:n.3196A>G | ||
| ENST00000528725.5:c.330A>G | ||
| ENST00000529977.5:n.1535A>G | ||
| ENST00000530044.5:c.3634A>G | ENSP00000435866.1:p.Ile1212Val | |
| ENST00000531747.1:c.870A>G | ||
| ENST00000533737.5:c.297A>G | ||
| NM_001243254.1:c.3634A>G | NP_001230183.1:p.Ile1212Val | |
| NM_015213.3:c.3634A>G | NP_056028.2:p.Ile1212Val | |
| XM_005252832.1:c.3634A>G | XP_005252889.1:p.Ile1212Val | |
| XM_011519952.1:c.3634A>G | XP_011518254.1:p.Ile1212Val | |
| XM_011519953.1:c.1732A>G | XP_011518255.1:p.Ile578Val | |
| XR_242782.2:n.3816A>G | ||
| XR_930851.1:n.3816A>G | ||
| NM_001348749.1:c.3562A>G | NP_001335678.1:p.Ile1188Val | |
| NM_001348750.1:c.3346A>G | NP_001335679.1:p.Ile1116Val | |
| NR_145966.2:n.3808A>G | ||
| NM_015213.4:c.3634A>G MANE Select | NP_056028.2:p.Ile1212Val | |
| NM_001243254.2:c.3634A>G | NP_001230183.1:p.Ile1212Val | |
| NM_001348749.2:c.3562A>G | NP_001335678.1:p.Ile1188Val | |
| NM_001348750.2:c.3346A>G | NP_001335679.1:p.Ile1116Val |