Linked Data
dbSNP Id:
rs11823543
gnomAD v2:
11-116649135-G-A
gnomAD v3:
11-116778419-G-A
gnomAD v4:
11-116778419-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116778419G>A , CM000673.2:g.116778419G>A | GRCh38 |
| NC_000011.9:g.116649135G>A , CM000673.1:g.116649135G>A | GRCh37 |
| NC_000011.8:g.116154345G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227322.8:c.*506C>T MANE Select | ENSP00000227322.3:n.*506C>T | |
| ENST00000227322.7:c.*506C>T | ENSP00000227322.3:n.*506C>T | |
| ENST00000429220.5:c.1665C>T | ||
| ENST00000444935.5:c.1798C>T | ||
| NM_001317086.1:c.*506C>T | NP_001304015.1:n.*506C>T | |
| NM_003904.4:c.*506C>T | NP_003895.1:n.*506C>T | |
| NM_003904.5:c.*506C>T MANE Select | NP_003895.1:n.*506C>T | |
| NM_001317086.2:c.*506C>T | NP_001304015.1:n.*506C>T |