Linked Data
dbSNP Id:
rs2440
gnomAD v2:
2-217070766-G-A
gnomAD v3:
2-216206043-G-A
gnomAD v4:
2-216206043-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216206043G>A , CM000664.2:g.216206043G>A | GRCh38 |
| NC_000002.11:g.217070766G>A , CM000664.1:g.217070766G>A | GRCh37 |
| NC_000002.10:g.216779011G>A | NCBI36 |
| NG_029780.1:g.101747G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392132.7:c.*841G>A MANE Select | ENSP00000375977.2:n.*841G>A | |
| ENST00000392132.6:c.*841G>A | ENSP00000375977.2:n.*841G>A | |
| ENST00000392133.7:c.*841G>A | ENSP00000375978.3:n.*841G>A | |
| NM_021141.3:c.*841G>A | NP_066964.1:n.*841G>A | |
| NM_021141.4:c.*841G>A MANE Select | NP_066964.1:n.*841G>A |