Linked Data
ClinVar Variation Id:
1327556
ClinVar RCV Id:
RCV001789818
dbSNP Id:
rs886042096
gnomAD v4:
12-102844418-G-T
ERepo:
CA16020914/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844418G>T , CM000674.2:g.102844418G>T | GRCh38 |
| NC_000012.11:g.103238196G>T , CM000674.1:g.103238196G>T | GRCh37 |
| NC_000012.10:g.101762326G>T | NCBI36 |
| NG_008690.1:g.78185C>A | |
| NG_008690.2:g.118993C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.983C>A MANE Select | ENSP00000448059.1:p.Thr328Asn | |
| ENST00000307000.7:c.968C>A | ENSP00000303500.2:p.Thr323Asn | |
| ENST00000549247.6:n.742C>A | ||
| ENST00000551114.2:n.645C>A | ||
| ENST00000553106.5:c.983C>A | ENSP00000448059.1:p.Thr328Asn | |
| ENST00000635477.1:c.87C>A | ||
| ENST00000635528.1:n.498C>A | ||
| NM_000277.1:c.983C>A | NP_000268.1:p.Thr328Asn | |
| XM_011538422.1:c.926C>A | XP_011536724.1:p.Thr309Asn | |
| NM_000277.2:c.983C>A | NP_000268.1:p.Thr328Asn | |
| NM_001354304.1:c.983C>A | NP_001341233.1:p.Thr328Asn | |
| NM_000277.3:c.983C>A MANE Select | NP_000268.1:p.Thr328Asn | |
| NM_001354304.2:c.983C>A | NP_001341233.1:p.Thr328Asn |