Linked Data
dbSNP Id:
rs932344047
gnomAD v2:
1-41944714-G-A
gnomAD v3:
1-41479043-G-A
gnomAD v4:
1-41479043-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.41479043G>A , CM000663.2:g.41479043G>A | GRCh38 |
| NC_000001.10:g.41944714G>A , CM000663.1:g.41944714G>A | GRCh37 |
| NC_000001.9:g.41717301G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372587.5:c.*366C>T MANE Select | ENSP00000361668.4:n.*366C>T | |
| ENST00000372587.4:c.*366C>T | ENSP00000361668.4:n.*366C>T | |
| NM_001302269.1:c.*366C>T | NP_001289198.1:n.*366C>T | |
| NM_001956.4:c.*366C>T | NP_001947.1:n.*366C>T | |
| NR_126098.1:n.894C>T | ||
| XM_017000512.1:c.*366C>T | XP_016856001.1:n.*366C>T | |
| NM_001956.5:c.*366C>T MANE Select | NP_001947.1:n.*366C>T | |
| NM_001302269.2:c.*366C>T | NP_001289198.1:n.*366C>T | |
| NR_126098.2:n.894C>T |