Linked Data
dbSNP Id:
rs780747364
ExAC:
9:2645706 A / C
gnomAD v2:
9-2645706-A-C
gnomAD v3:
9-2645706-A-C
gnomAD v4:
9-2645706-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2645706A>C , CM000671.2:g.2645706A>C | GRCh38 |
| NC_000009.11:g.2645706A>C , CM000671.1:g.2645706A>C | GRCh37 |
| NC_000009.10:g.2635706A>C | NCBI36 |
| NG_012741.1:g.28914A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382099.3:c.1003A>C | ||
| ENST00000382100.8:c.1445A>C MANE Select | ENSP00000371532.2:p.Lys482Thr | |
| ENST00000478776.2:n.890A>C | ||
| ENST00000679718.1:n.681A>C | ||
| ENST00000679750.1:n.861A>C | ||
| ENST00000679851.1:n.1629A>C | ||
| ENST00000680021.1:n.1645A>C | ||
| ENST00000680043.1:c.997A>C | ||
| ENST00000680219.1:c.1012A>C | ||
| ENST00000680243.1:c.*1224A>C | ENSP00000505911.1:n.*1224A>C | |
| ENST00000680296.1:c.871A>C | ||
| ENST00000680332.1:n.528A>C | ||
| ENST00000680746.1:c.1322A>C | ENSP00000505030.1:p.Lys441Thr | |
| ENST00000680751.1:n.850A>C | ||
| ENST00000680891.1:c.*1237A>C | ENSP00000505167.1:n.*1237A>C | |
| ENST00000680975.1:n.830A>C | ||
| ENST00000681087.1:n.890A>C | ||
| ENST00000681306.1:c.1445A>C | ENSP00000506072.1:p.Lys482Thr | |
| ENST00000681618.1:c.1322A>C | ENSP00000505773.1:p.Lys441Thr | |
| ENST00000681644.1:c.*1117A>C | ENSP00000505180.1:n.*1117A>C | |
| ENST00000681806.1:c.1445A>C | ENSP00000505282.1:p.Lys482Thr | |
| ENST00000681942.1:c.993A>C | ||
| ENST00000382099.2:c.1445A>C | ENSP00000371531.2:p.Lys482Thr | |
| ENST00000382100.7:c.1445A>C | ENSP00000371532.2:p.Lys482Thr | |
| NM_001018056.1:c.1445A>C | NP_001018066.1:p.Lys482Thr | |
| NM_003383.3:c.1445A>C | NP_003374.3:p.Lys482Thr | |
| XM_011518029.1:c.1322A>C | XP_011516331.1:p.Lys441Thr | |
| NM_001018056.2:c.1445A>C | NP_001018066.1:p.Lys482Thr | |
| NM_001322225.1:c.1322A>C | NP_001309154.1:p.Lys441Thr | |
| NM_001322226.1:c.1322A>C | NP_001309155.1:p.Lys441Thr | |
| NM_003383.4:c.1445A>C | NP_003374.3:p.Lys482Thr | |
| XR_001746373.2:n.1849A>C | ||
| XR_002956805.1:n.1849A>C | ||
| NM_003383.5:c.1445A>C MANE Select | NP_003374.3:p.Lys482Thr | |
| NM_001018056.3:c.1445A>C | NP_001018066.1:p.Lys482Thr | |
| NM_001322225.2:c.1322A>C | NP_001309154.1:p.Lys441Thr | |
| NM_001322226.2:c.1322A>C | NP_001309155.1:p.Lys441Thr |