Linked Data
dbSNP Id:
rs1387450789
gnomAD v2:
11-71954679-A-G
gnomAD v3:
11-72243635-A-G
gnomAD v4:
11-72243635-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243635A>G , CM000673.2:g.72243635A>G | GRCh38 |
| NC_000011.9:g.71954679A>G , CM000673.1:g.71954679A>G | GRCh37 |
| NC_000011.8:g.71632327A>G | NCBI36 |
| NG_008169.1:g.5542T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298231.5:c.217+153T>C MANE Select | ENSP00000298231.5:n.217+153T>C | |
| ENST00000544057.1:n.85+1945T>C | ||
| NM_005169.3:c.217+153T>C | NP_005160.2:n.217+153T>C | |
| NM_005169.4:c.217+153T>C MANE Select | NP_005160.2:n.217+153T>C |