Linked Data
ClinVar Variation Id:
356225
ClinVar RCV Id:
RCV000340930
dbSNP Id:
rs886061286
gnomAD v2:
6-31826972-G-A
gnomAD v3:
6-31859195-G-A
gnomAD v4:
6-31859195-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859195G>A , CM000668.2:g.31859195G>A | GRCh38 |
| NC_000006.11:g.31826972G>A , CM000668.1:g.31826972G>A | GRCh37 |
| NC_000006.10:g.31934951G>A | NCBI36 |
| NG_008201.1:g.8738C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.*524C>T MANE Select | ENSP00000364782.4:n.*524C>T | |
| ENST00000375631.4:c.*524C>T | ENSP00000364782.4:n.*524C>T | |
| ENST00000480384.1:n.2071C>T | ||
| ENST00000491768.5:c.*882C>T | ENSP00000433127.1:n.*882C>T | |
| ENST00000495807.1:n.3080C>T | ||
| NM_000434.3:c.*524C>T | NP_000425.1:n.*524C>T | |
| NM_000434.4:c.*524C>T MANE Select | NP_000425.1:n.*524C>T |