Linked Data
ClinVar Variation Id:
127266
ClinVar RCV Id:
RCV000115063
dbSNP Id:
rs28384513
gnomAD v2:
6-135376209-T-G
gnomAD v3:
6-135055071-T-G
gnomAD v4:
6-135055071-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135055071T>G , CM000668.2:g.135055071T>G | GRCh38 |
| NC_000006.11:g.135376209T>G , CM000668.1:g.135376209T>G | GRCh37 |
| NC_000006.10:g.135417902T>G | NCBI36 |
| NG_012002.1:g.4828A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529882.5:c.89-4424A>C | ENSP00000433030.1:n.89-4424A>C |