Linked Data
dbSNP Id:
rs557048981
gnomAD v3:
2-88859720-A-T
gnomAD v4:
2-88859720-A-T
COSMIC:
COSN25322851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88859720A>T , CM000664.2:g.88859720A>T | GRCh38 |
| NC_000002.11:g.89159232A>T , CM000664.1:g.89159232A>T | GRCh37 |
| NC_000002.10:g.88940347A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377423.6:c.389-2037T>A (IGKV1-12) | ENSP00000480537.2:n.389-2037T>A | |
| ENST00000430694.5:c.37+1166T>A (IGKC) | ENSP00000481923.2:n.37+1166T>A | |
| ENST00000610638.3:c.397+1805T>A (IGKC) | ENSP00000484499.3:n.397+1805T>A | |
| ENST00000634828.1:c.382+1805T>A (IGKV1-8) | ENSP00000489500.1:n.382+1805T>A |