Linked Data
ClinVar Variation Id:
378855
dbSNP Id:
rs6147
ExAC:
9:2647579 C / T
gnomAD v2:
9-2647579-C-T
gnomAD v3:
9-2647579-C-T
gnomAD v4:
9-2647579-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2647579C>T , CM000671.2:g.2647579C>T | GRCh38 |
| NC_000009.11:g.2647579C>T , CM000671.1:g.2647579C>T | GRCh37 |
| NC_000009.10:g.2637579C>T | NCBI36 |
| NG_012741.1:g.30787C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382099.3:c.1367C>T | ||
| ENST00000382100.8:c.1809C>T MANE Select | ENSP00000371532.2:p.Asn603= | |
| ENST00000478776.2:n.1254C>T | ||
| ENST00000679488.1:n.299C>T | ||
| ENST00000679718.1:n.1045C>T | ||
| ENST00000679750.1:n.1225C>T | ||
| ENST00000679851.1:n.1993C>T | ||
| ENST00000680021.1:n.2009C>T | ||
| ENST00000680043.1:c.1361C>T | ||
| ENST00000680219.1:c.1376C>T | ||
| ENST00000680243.1:c.*1588C>T | ENSP00000505911.1:n.*1588C>T | |
| ENST00000680296.1:c.1235C>T | ||
| ENST00000680332.1:n.827C>T | ||
| ENST00000680746.1:c.1686C>T | ENSP00000505030.1:p.Asn562= | |
| ENST00000680751.1:n.1214C>T | ||
| ENST00000680891.1:c.*1601C>T | ENSP00000505167.1:n.*1601C>T | |
| ENST00000680975.1:n.1194C>T | ||
| ENST00000681087.1:n.1254C>T | ||
| ENST00000681306.1:c.1809C>T | ENSP00000506072.1:p.Asn603= | |
| ENST00000681618.1:c.1686C>T | ENSP00000505773.1:p.Asn562= | |
| ENST00000681644.1:c.*1481C>T | ENSP00000505180.1:n.*1481C>T | |
| ENST00000681806.1:c.*247C>T | ENSP00000505282.1:n.*247C>T | |
| ENST00000681942.1:c.1292C>T | ||
| ENST00000382099.2:c.1809C>T | ENSP00000371531.2:p.Asn603= | |
| ENST00000382100.7:c.1809C>T | ENSP00000371532.2:p.Asn603= | |
| ENST00000478776.1:n.321C>T | ||
| NM_001018056.1:c.1809C>T | NP_001018066.1:p.Asn603= | |
| NM_003383.3:c.1809C>T | NP_003374.3:p.Asn603= | |
| XM_011518029.1:c.1686C>T | XP_011516331.1:p.Asn562= | |
| NM_001018056.2:c.1809C>T | NP_001018066.1:p.Asn603= | |
| NM_001322225.1:c.1686C>T | NP_001309154.1:p.Asn562= | |
| NM_001322226.1:c.1686C>T | NP_001309155.1:p.Asn562= | |
| NM_003383.4:c.1809C>T | NP_003374.3:p.Asn603= | |
| XR_001746373.2:n.2148C>T | ||
| XR_002956805.1:n.2148C>T | ||
| NM_003383.5:c.1809C>T MANE Select | NP_003374.3:p.Asn603= | |
| NM_001018056.3:c.1809C>T | NP_001018066.1:p.Asn603= | |
| NM_001322225.2:c.1686C>T | NP_001309154.1:p.Asn562= | |
| NM_001322226.2:c.1686C>T | NP_001309155.1:p.Asn562= |