Linked Data
dbSNP Id:
rs1454350032
gnomAD v2:
6-35791658-G-C
gnomAD v3:
6-35823881-G-C
gnomAD v4:
6-35823881-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823881G>C , CM000668.2:g.35823881G>C | GRCh38 |
| NC_000006.11:g.35791658G>C , CM000668.1:g.35791658G>C | GRCh37 |
| NC_000006.10:g.35899636G>C | NCBI36 |
| NG_012184.1:g.23588G>C | |
| NG_012184.2:g.23588G>C | |
| NG_012184.3:g.31676G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*916G>C MANE Select | ENSP00000353346.1:n.*916G>C | |
| ENST00000496656.2:n.578+4061G>C | ||
| ENST00000651132.1:c.*916G>C | ENSP00000498322.1:n.*916G>C | |
| ENST00000651676.1:c.*16+4418G>C | ENSP00000498699.1:n.*16+4418G>C | |
| ENST00000652718.1:c.508+4418G>C | ENSP00000498866.1:n.508+4418G>C | |
| ENST00000360215.2:c.*916G>C | ENSP00000353346.1:n.*916G>C | |
| ENST00000496656.1:n.812+4061G>C | ||
| NM_182548.3:c.*916G>C | NP_872354.1:n.*916G>C | |
| NM_182548.4:c.*916G>C MANE Select | NP_872354.1:n.*916G>C |