Linked Data
ClinVar Variation Id:
2395940
ClinVar RCV Id:
RCV002704945
dbSNP Id:
rs372671648
ExAC:
11:9163646 T / A
gnomAD v2:
11-9163646-T-A
gnomAD v3:
11-9142099-T-A
gnomAD v4:
11-9142099-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9142099T>A , CM000673.2:g.9142099T>A | GRCh38 |
| NC_000011.9:g.9163646T>A , CM000673.1:g.9163646T>A | GRCh37 |
| NC_000011.8:g.9120222T>A | NCBI36 |
| NG_053019.1:g.128237A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3521A>T MANE Select | ENSP00000328524.3:p.Gln1174Leu | |
| ENST00000525784.6:n.1383A>T | ||
| ENST00000530780.2:c.*3347A>T | ENSP00000433925.1:n.*3347A>T | |
| ENST00000531747.2:n.3192A>T | ||
| ENST00000679446.1:n.3442A>T | ||
| ENST00000679458.1:n.4922A>T | ||
| ENST00000679460.1:n.4583A>T | ||
| ENST00000679568.1:c.3521A>T | ENSP00000505860.1:p.Gln1174Leu | |
| ENST00000679745.1:n.4026A>T | ||
| ENST00000679773.1:n.2682A>T | ||
| ENST00000679926.1:n.4823A>T | ||
| ENST00000679999.1:c.*578A>T | ENSP00000505198.1:n.*578A>T | |
| ENST00000680252.1:c.3188A>T | ||
| ENST00000680294.1:c.3314A>T | ENSP00000506113.1:p.Gln1105Leu | |
| ENST00000680358.1:n.2820A>T | ||
| ENST00000680470.1:c.*1302A>T | ENSP00000505975.1:n.*1302A>T | |
| ENST00000680554.1:c.*54A>T | ENSP00000505621.1:n.*54A>T | |
| ENST00000680576.1:n.4997A>T | ||
| ENST00000680599.1:n.3562A>T | ||
| ENST00000680742.1:c.*54A>T | ENSP00000505206.1:n.*54A>T | |
| ENST00000680791.1:n.2405A>T | ||
| ENST00000680885.1:n.5223A>T | ||
| ENST00000681158.1:c.3105A>T | ||
| ENST00000681203.1:c.3449A>T | ENSP00000506456.1:p.Gln1150Leu | |
| ENST00000681371.1:n.3393A>T | ||
| ENST00000681425.1:n.3999A>T | ||
| ENST00000681639.1:n.1800A>T | ||
| ENST00000328194.7:c.3521A>T | ENSP00000328524.3:p.Gln1174Leu | |
| ENST00000525784.5:c.457A>T | ||
| ENST00000527700.5:n.3083A>T | ||
| ENST00000528725.5:c.217A>T | ||
| ENST00000529977.5:n.1422A>T | ||
| ENST00000530044.5:c.3521A>T | ENSP00000435866.1:p.Gln1174Leu | |
| ENST00000531747.1:c.757A>T | ||
| ENST00000533737.5:c.184A>T | ||
| NM_001243254.1:c.3521A>T | NP_001230183.1:p.Gln1174Leu | |
| NM_015213.3:c.3521A>T | NP_056028.2:p.Gln1174Leu | |
| XM_005252832.1:c.3521A>T | XP_005252889.1:p.Gln1174Leu | |
| XM_011519952.1:c.3521A>T | XP_011518254.1:p.Gln1174Leu | |
| XM_011519953.1:c.1619A>T | XP_011518255.1:p.Gln540Leu | |
| XR_242782.2:n.3703A>T | ||
| XR_930851.1:n.3703A>T | ||
| NM_001348749.1:c.3449A>T | NP_001335678.1:p.Gln1150Leu | |
| NM_001348750.1:c.3233A>T | NP_001335679.1:p.Gln1078Leu | |
| NR_145966.2:n.3695A>T | ||
| NM_015213.4:c.3521A>T MANE Select | NP_056028.2:p.Gln1174Leu | |
| NM_001243254.2:c.3521A>T | NP_001230183.1:p.Gln1174Leu | |
| NM_001348749.2:c.3449A>T | NP_001335678.1:p.Gln1150Leu | |
| NM_001348750.2:c.3233A>T | NP_001335679.1:p.Gln1078Leu |