Linked Data
dbSNP Id:
rs138208473
gnomAD v3:
2-88859801-A-C
gnomAD v4:
2-88859801-A-C
COSMIC:
COSN25691534
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88859801A>C , CM000664.2:g.88859801A>C | GRCh38 |
| NC_000002.11:g.89159313A>C , CM000664.1:g.89159313A>C | GRCh37 |
| NC_000002.10:g.88940428A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377423.6:c.388+2085T>G (IGKV1-12) | ENSP00000480537.2:n.388+2085T>G | |
| ENST00000430694.5:c.37+1085T>G (IGKC) | ENSP00000481923.2:n.37+1085T>G | |
| ENST00000610638.3:c.397+1724T>G (IGKC) | ENSP00000484499.3:n.397+1724T>G | |
| ENST00000634828.1:c.382+1724T>G (IGKV1-8) | ENSP00000489500.1:n.382+1724T>G |