Linked Data
ClinVar Variation Id:
2192598
ClinVar RCV Id:
RCV002607556
dbSNP Id:
rs140535278
ExAC:
11:9163519 G / C
gnomAD v2:
11-9163519-G-C
gnomAD v3:
11-9141972-G-C
gnomAD v4:
11-9141972-G-C
MyVariant Identifiers:
chr11:g.9163519G>C (hg19)
chr11:g.9163519_9163520delinsCC (hg19)
chr11:g.9141972G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9141972G>C , CM000673.2:g.9141972G>C | GRCh38 |
| NC_000011.9:g.9163519G>C , CM000673.1:g.9163519G>C | GRCh37 |
| NC_000011.8:g.9120095G>C | NCBI36 |
| NG_053019.1:g.128364C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3648C>G MANE Select | ENSP00000328524.3:p.Gly1216= | |
| ENST00000525784.6:n.1510C>G | ||
| ENST00000530780.2:c.*3474C>G | ENSP00000433925.1:n.*3474C>G | |
| ENST00000531747.2:n.3319C>G | ||
| ENST00000679446.1:n.3569C>G | ||
| ENST00000679458.1:n.5049C>G | ||
| ENST00000679460.1:n.4710C>G | ||
| ENST00000679568.1:c.3648C>G | ENSP00000505860.1:p.Gly1216= | |
| ENST00000679745.1:n.4153C>G | ||
| ENST00000679773.1:n.2809C>G | ||
| ENST00000679926.1:n.4950C>G | ||
| ENST00000679999.1:c.*705C>G | ENSP00000505198.1:n.*705C>G | |
| ENST00000680252.1:c.3315C>G | ||
| ENST00000680294.1:c.3441C>G | ENSP00000506113.1:p.Gly1147= | |
| ENST00000680358.1:n.2947C>G | ||
| ENST00000680470.1:c.*1429C>G | ENSP00000505975.1:n.*1429C>G | |
| ENST00000680554.1:c.*181C>G | ENSP00000505621.1:n.*181C>G | |
| ENST00000680576.1:n.5124C>G | ||
| ENST00000680599.1:n.3689C>G | ||
| ENST00000680742.1:c.*179+2C>G | ENSP00000505206.1:n.*179+2C>G | |
| ENST00000680791.1:n.2532C>G | ||
| ENST00000680885.1:n.5350C>G | ||
| ENST00000681158.1:c.3232C>G | ||
| ENST00000681203.1:c.3576C>G | ENSP00000506456.1:p.Gly1192= | |
| ENST00000681371.1:n.3520C>G | ||
| ENST00000681425.1:n.4126C>G | ||
| ENST00000681639.1:n.1927C>G | ||
| ENST00000328194.7:c.3648C>G | ENSP00000328524.3:p.Gly1216= | |
| ENST00000525784.5:c.584C>G | ||
| ENST00000527700.5:n.3210C>G | ||
| ENST00000528725.5:c.344C>G | ||
| ENST00000529977.5:n.1549C>G | ||
| ENST00000530044.5:c.3646+2C>G | ENSP00000435866.1:n.3646+2C>G | |
| ENST00000531747.1:c.884C>G | ||
| ENST00000533737.5:c.311C>G | ||
| NM_001243254.1:c.3646+2C>G | NP_001230183.1:n.3646+2C>G | |
| NM_015213.3:c.3648C>G | NP_056028.2:p.Gly1216= | |
| XM_005252832.1:c.3648C>G | XP_005252889.1:p.Gly1216= | |
| XM_011519952.1:c.3646+2C>G | XP_011518254.1:n.3646+2C>G | |
| XM_011519953.1:c.1746C>G | XP_011518255.1:p.Gly582= | |
| XR_242782.2:n.3830C>G | ||
| XR_930851.1:n.3828+2C>G | ||
| NM_001348749.1:c.3576C>G | NP_001335678.1:p.Gly1192= | |
| NM_001348750.1:c.3360C>G | NP_001335679.1:p.Gly1120= | |
| NR_145966.2:n.3822C>G | ||
| NM_015213.4:c.3648C>G MANE Select | NP_056028.2:p.Gly1216= | |
| NM_001243254.2:c.3646+2C>G | NP_001230183.1:n.3646+2C>G | |
| NM_001348749.2:c.3576C>G | NP_001335678.1:p.Gly1192= | |
| NM_001348750.2:c.3360C>G | NP_001335679.1:p.Gly1120= |