Linked Data
dbSNP Id:
rs1847261530
gnomAD v3:
11-9142041-T-C
gnomAD v4:
11-9142041-T-C
MyVariant Identifiers:
chr11:g.9163588T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9142041T>C , CM000673.2:g.9142041T>C | GRCh38 |
| NC_000011.9:g.9163588T>C , CM000673.1:g.9163588T>C | GRCh37 |
| NC_000011.8:g.9120164T>C | NCBI36 |
| NG_053019.1:g.128295A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3579A>G MANE Select | ENSP00000328524.3:p.Thr1193= | |
| ENST00000525784.6:n.1441A>G | ||
| ENST00000530780.2:c.*3405A>G | ENSP00000433925.1:n.*3405A>G | |
| ENST00000531747.2:n.3250A>G | ||
| ENST00000679446.1:n.3500A>G | ||
| ENST00000679458.1:n.4980A>G | ||
| ENST00000679460.1:n.4641A>G | ||
| ENST00000679568.1:c.3579A>G | ENSP00000505860.1:p.Thr1193= | |
| ENST00000679745.1:n.4084A>G | ||
| ENST00000679773.1:n.2740A>G | ||
| ENST00000679926.1:n.4881A>G | ||
| ENST00000679999.1:c.*636A>G | ENSP00000505198.1:n.*636A>G | |
| ENST00000680252.1:c.3246A>G | ||
| ENST00000680294.1:c.3372A>G | ENSP00000506113.1:p.Thr1124= | |
| ENST00000680358.1:n.2878A>G | ||
| ENST00000680470.1:c.*1360A>G | ENSP00000505975.1:n.*1360A>G | |
| ENST00000680554.1:c.*112A>G | ENSP00000505621.1:n.*112A>G | |
| ENST00000680576.1:n.5055A>G | ||
| ENST00000680599.1:n.3620A>G | ||
| ENST00000680742.1:c.*112A>G | ENSP00000505206.1:n.*112A>G | |
| ENST00000680791.1:n.2463A>G | ||
| ENST00000680885.1:n.5281A>G | ||
| ENST00000681158.1:c.3163A>G | ||
| ENST00000681203.1:c.3507A>G | ENSP00000506456.1:p.Thr1169= | |
| ENST00000681371.1:n.3451A>G | ||
| ENST00000681425.1:n.4057A>G | ||
| ENST00000681639.1:n.1858A>G | ||
| ENST00000328194.7:c.3579A>G | ENSP00000328524.3:p.Thr1193= | |
| ENST00000525784.5:c.515A>G | ||
| ENST00000527700.5:n.3141A>G | ||
| ENST00000528725.5:c.275A>G | ||
| ENST00000529977.5:n.1480A>G | ||
| ENST00000530044.5:c.3579A>G | ENSP00000435866.1:p.Thr1193= | |
| ENST00000531747.1:c.815A>G | ||
| ENST00000533737.5:c.242A>G | ||
| NM_001243254.1:c.3579A>G | NP_001230183.1:p.Thr1193= | |
| NM_015213.3:c.3579A>G | NP_056028.2:p.Thr1193= | |
| XM_005252832.1:c.3579A>G | XP_005252889.1:p.Thr1193= | |
| XM_011519952.1:c.3579A>G | XP_011518254.1:p.Thr1193= | |
| XM_011519953.1:c.1677A>G | XP_011518255.1:p.Thr559= | |
| XR_242782.2:n.3761A>G | ||
| XR_930851.1:n.3761A>G | ||
| NM_001348749.1:c.3507A>G | NP_001335678.1:p.Thr1169= | |
| NM_001348750.1:c.3291A>G | NP_001335679.1:p.Thr1097= | |
| NR_145966.2:n.3753A>G | ||
| NM_015213.4:c.3579A>G MANE Select | NP_056028.2:p.Thr1193= | |
| NM_001243254.2:c.3579A>G | NP_001230183.1:p.Thr1193= | |
| NM_001348749.2:c.3507A>G | NP_001335678.1:p.Thr1169= | |
| NM_001348750.2:c.3291A>G | NP_001335679.1:p.Thr1097= |