Linked Data
dbSNP Id:
rs766305722
ExAC:
11:9163589 G / T
gnomAD v2:
11-9163589-G-T
gnomAD v4:
11-9142042-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9142042G>T , CM000673.2:g.9142042G>T | GRCh38 |
| NC_000011.9:g.9163589G>T , CM000673.1:g.9163589G>T | GRCh37 |
| NC_000011.8:g.9120165G>T | NCBI36 |
| NG_053019.1:g.128294C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3578C>A MANE Select | ENSP00000328524.3:p.Thr1193Lys | |
| ENST00000525784.6:n.1440C>A | ||
| ENST00000530780.2:c.*3404C>A | ENSP00000433925.1:n.*3404C>A | |
| ENST00000531747.2:n.3249C>A | ||
| ENST00000679446.1:n.3499C>A | ||
| ENST00000679458.1:n.4979C>A | ||
| ENST00000679460.1:n.4640C>A | ||
| ENST00000679568.1:c.3578C>A | ENSP00000505860.1:p.Thr1193Lys | |
| ENST00000679745.1:n.4083C>A | ||
| ENST00000679773.1:n.2739C>A | ||
| ENST00000679926.1:n.4880C>A | ||
| ENST00000679999.1:c.*635C>A | ENSP00000505198.1:n.*635C>A | |
| ENST00000680252.1:c.3245C>A | ||
| ENST00000680294.1:c.3371C>A | ENSP00000506113.1:p.Thr1124Lys | |
| ENST00000680358.1:n.2877C>A | ||
| ENST00000680470.1:c.*1359C>A | ENSP00000505975.1:n.*1359C>A | |
| ENST00000680554.1:c.*111C>A | ENSP00000505621.1:n.*111C>A | |
| ENST00000680576.1:n.5054C>A | ||
| ENST00000680599.1:n.3619C>A | ||
| ENST00000680742.1:c.*111C>A | ENSP00000505206.1:n.*111C>A | |
| ENST00000680791.1:n.2462C>A | ||
| ENST00000680885.1:n.5280C>A | ||
| ENST00000681158.1:c.3162C>A | ||
| ENST00000681203.1:c.3506C>A | ENSP00000506456.1:p.Thr1169Lys | |
| ENST00000681371.1:n.3450C>A | ||
| ENST00000681425.1:n.4056C>A | ||
| ENST00000681639.1:n.1857C>A | ||
| ENST00000328194.7:c.3578C>A | ENSP00000328524.3:p.Thr1193Lys | |
| ENST00000525784.5:c.514C>A | ||
| ENST00000527700.5:n.3140C>A | ||
| ENST00000528725.5:c.274C>A | ||
| ENST00000529977.5:n.1479C>A | ||
| ENST00000530044.5:c.3578C>A | ENSP00000435866.1:p.Thr1193Lys | |
| ENST00000531747.1:c.814C>A | ||
| ENST00000533737.5:c.241C>A | ||
| NM_001243254.1:c.3578C>A | NP_001230183.1:p.Thr1193Lys | |
| NM_015213.3:c.3578C>A | NP_056028.2:p.Thr1193Lys | |
| XM_005252832.1:c.3578C>A | XP_005252889.1:p.Thr1193Lys | |
| XM_011519952.1:c.3578C>A | XP_011518254.1:p.Thr1193Lys | |
| XM_011519953.1:c.1676C>A | XP_011518255.1:p.Thr559Lys | |
| XR_242782.2:n.3760C>A | ||
| XR_930851.1:n.3760C>A | ||
| NM_001348749.1:c.3506C>A | NP_001335678.1:p.Thr1169Lys | |
| NM_001348750.1:c.3290C>A | NP_001335679.1:p.Thr1097Lys | |
| NR_145966.2:n.3752C>A | ||
| NM_015213.4:c.3578C>A MANE Select | NP_056028.2:p.Thr1193Lys | |
| NM_001243254.2:c.3578C>A | NP_001230183.1:p.Thr1193Lys | |
| NM_001348749.2:c.3506C>A | NP_001335678.1:p.Thr1169Lys | |
| NM_001348750.2:c.3290C>A | NP_001335679.1:p.Thr1097Lys |