Linked Data
dbSNP Id:
rs1675125787
gnomAD v3:
2-88859712-G-A
gnomAD v4:
2-88859712-G-A
COSMIC:
COSN23215125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88859712G>A , CM000664.2:g.88859712G>A | GRCh38 |
| NC_000002.11:g.89159224G>A , CM000664.1:g.89159224G>A | GRCh37 |
| NC_000002.10:g.88940339G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377423.6:c.389-2029C>T (IGKV1-12) | ENSP00000480537.2:n.389-2029C>T | |
| ENST00000430694.5:c.37+1174C>T (IGKC) | ENSP00000481923.2:n.37+1174C>T | |
| ENST00000610638.3:c.397+1813C>T (IGKC) | ENSP00000484499.3:n.397+1813C>T | |
| ENST00000634828.1:c.382+1813C>T (IGKV1-8) | ENSP00000489500.1:n.382+1813C>T |