Linked Data
dbSNP Id:
rs778943765
ExAC:
12:21327684 G / A
gnomAD v2:
12-21327684-G-A
gnomAD v4:
12-21174750-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174750G>A , CM000674.2:g.21174750G>A | GRCh38 |
| NC_000012.11:g.21327684G>A , CM000674.1:g.21327684G>A | GRCh37 |
| NC_000012.10:g.21218951G>A | NCBI36 |
| NG_011745.1:g.48557G>A , LRG_1022:g.48557G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.359+41G>A MANE Select | ENSP00000256958.2:n.359+41G>A | |
| ENST00000256958.2:c.359+41G>A | ENSP00000256958.2:n.359+41G>A | |
| ENST00000543498.5:c.426-2026G>A | ||
| NM_006446.4:c.359+41G>A , LRG_1022t1:c.359+41G>A | NP_006437.3:n.359+41G>A | |
| NM_006446.5:c.359+41G>A MANE Select | NP_006437.3:n.359+41G>A |