Linked Data
dbSNP Id:
rs756688059
ExAC:
9:2645697 C / T
gnomAD v3:
9-2645697-C-T
gnomAD v4:
9-2645697-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2645697C>T , CM000671.2:g.2645697C>T | GRCh38 |
| NC_000009.11:g.2645697C>T , CM000671.1:g.2645697C>T | GRCh37 |
| NC_000009.10:g.2635697C>T | NCBI36 |
| NG_012741.1:g.28905C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382099.3:c.994C>T | ||
| ENST00000382100.8:c.1436C>T MANE Select | ENSP00000371532.2:p.Ala479Val | |
| ENST00000478776.2:n.881C>T | ||
| ENST00000679718.1:n.672C>T | ||
| ENST00000679750.1:n.852C>T | ||
| ENST00000679851.1:n.1620C>T | ||
| ENST00000680021.1:n.1636C>T | ||
| ENST00000680043.1:c.988C>T | ||
| ENST00000680219.1:c.1003C>T | ||
| ENST00000680243.1:c.*1215C>T | ENSP00000505911.1:n.*1215C>T | |
| ENST00000680296.1:c.862C>T | ||
| ENST00000680332.1:n.519C>T | ||
| ENST00000680746.1:c.1313C>T | ENSP00000505030.1:p.Ala438Val | |
| ENST00000680751.1:n.841C>T | ||
| ENST00000680891.1:c.*1228C>T | ENSP00000505167.1:n.*1228C>T | |
| ENST00000680975.1:n.821C>T | ||
| ENST00000681087.1:n.881C>T | ||
| ENST00000681306.1:c.1436C>T | ENSP00000506072.1:p.Ala479Val | |
| ENST00000681618.1:c.1313C>T | ENSP00000505773.1:p.Ala438Val | |
| ENST00000681644.1:c.*1108C>T | ENSP00000505180.1:n.*1108C>T | |
| ENST00000681806.1:c.1436C>T | ENSP00000505282.1:p.Ala479Val | |
| ENST00000681942.1:c.984C>T | ||
| ENST00000382099.2:c.1436C>T | ENSP00000371531.2:p.Ala479Val | |
| ENST00000382100.7:c.1436C>T | ENSP00000371532.2:p.Ala479Val | |
| NM_001018056.1:c.1436C>T | NP_001018066.1:p.Ala479Val | |
| NM_003383.3:c.1436C>T | NP_003374.3:p.Ala479Val | |
| XM_011518029.1:c.1313C>T | XP_011516331.1:p.Ala438Val | |
| NM_001018056.2:c.1436C>T | NP_001018066.1:p.Ala479Val | |
| NM_001322225.1:c.1313C>T | NP_001309154.1:p.Ala438Val | |
| NM_001322226.1:c.1313C>T | NP_001309155.1:p.Ala438Val | |
| NM_003383.4:c.1436C>T | NP_003374.3:p.Ala479Val | |
| XR_001746373.2:n.1840C>T | ||
| XR_002956805.1:n.1840C>T | ||
| NM_003383.5:c.1436C>T MANE Select | NP_003374.3:p.Ala479Val | |
| NM_001018056.3:c.1436C>T | NP_001018066.1:p.Ala479Val | |
| NM_001322225.2:c.1313C>T | NP_001309154.1:p.Ala438Val | |
| NM_001322226.2:c.1313C>T | NP_001309155.1:p.Ala438Val |