Linked Data
dbSNP Id:
rs201590338
gnomAD v2:
11-9163531-G-A
gnomAD v3:
11-9141984-G-A
gnomAD v4:
11-9141984-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9141984G>A , CM000673.2:g.9141984G>A | GRCh38 |
| NC_000011.9:g.9163531G>A , CM000673.1:g.9163531G>A | GRCh37 |
| NC_000011.8:g.9120107G>A | NCBI36 |
| NG_053019.1:g.128352C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3636C>T MANE Select | ENSP00000328524.3:p.Ile1212= | |
| ENST00000525784.6:n.1498C>T | ||
| ENST00000530780.2:c.*3462C>T | ENSP00000433925.1:n.*3462C>T | |
| ENST00000531747.2:n.3307C>T | ||
| ENST00000679446.1:n.3557C>T | ||
| ENST00000679458.1:n.5037C>T | ||
| ENST00000679460.1:n.4698C>T | ||
| ENST00000679568.1:c.3636C>T | ENSP00000505860.1:p.Ile1212= | |
| ENST00000679745.1:n.4141C>T | ||
| ENST00000679773.1:n.2797C>T | ||
| ENST00000679926.1:n.4938C>T | ||
| ENST00000679999.1:c.*693C>T | ENSP00000505198.1:n.*693C>T | |
| ENST00000680252.1:c.3303C>T | ||
| ENST00000680294.1:c.3429C>T | ENSP00000506113.1:p.Ile1143= | |
| ENST00000680358.1:n.2935C>T | ||
| ENST00000680470.1:c.*1417C>T | ENSP00000505975.1:n.*1417C>T | |
| ENST00000680554.1:c.*169C>T | ENSP00000505621.1:n.*169C>T | |
| ENST00000680576.1:n.5112C>T | ||
| ENST00000680599.1:n.3677C>T | ||
| ENST00000680742.1:c.*169C>T | ENSP00000505206.1:n.*169C>T | |
| ENST00000680791.1:n.2520C>T | ||
| ENST00000680885.1:n.5338C>T | ||
| ENST00000681158.1:c.3220C>T | ||
| ENST00000681203.1:c.3564C>T | ENSP00000506456.1:p.Ile1188= | |
| ENST00000681371.1:n.3508C>T | ||
| ENST00000681425.1:n.4114C>T | ||
| ENST00000681639.1:n.1915C>T | ||
| ENST00000328194.7:c.3636C>T | ENSP00000328524.3:p.Ile1212= | |
| ENST00000525784.5:c.572C>T | ||
| ENST00000527700.5:n.3198C>T | ||
| ENST00000528725.5:c.332C>T | ||
| ENST00000529977.5:n.1537C>T | ||
| ENST00000530044.5:c.3636C>T | ENSP00000435866.1:p.Ile1212= | |
| ENST00000531747.1:c.872C>T | ||
| ENST00000533737.5:c.299C>T | ||
| NM_001243254.1:c.3636C>T | NP_001230183.1:p.Ile1212= | |
| NM_015213.3:c.3636C>T | NP_056028.2:p.Ile1212= | |
| XM_005252832.1:c.3636C>T | XP_005252889.1:p.Ile1212= | |
| XM_011519952.1:c.3636C>T | XP_011518254.1:p.Ile1212= | |
| XM_011519953.1:c.1734C>T | XP_011518255.1:p.Ile578= | |
| XR_242782.2:n.3818C>T | ||
| XR_930851.1:n.3818C>T | ||
| NM_001348749.1:c.3564C>T | NP_001335678.1:p.Ile1188= | |
| NM_001348750.1:c.3348C>T | NP_001335679.1:p.Ile1116= | |
| NR_145966.2:n.3810C>T | ||
| NM_015213.4:c.3636C>T MANE Select | NP_056028.2:p.Ile1212= | |
| NM_001243254.2:c.3636C>T | NP_001230183.1:p.Ile1212= | |
| NM_001348749.2:c.3564C>T | NP_001335678.1:p.Ile1188= | |
| NM_001348750.2:c.3348C>T | NP_001335679.1:p.Ile1116= |