Linked Data
ClinVar Variation Id:
356545
ClinVar RCV Id:
RCV000270857
dbSNP Id:
rs9462125
gnomAD v2:
6-35791302-G-C
gnomAD v3:
6-35823525-G-C
gnomAD v4:
6-35823525-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823525G>C , CM000668.2:g.35823525G>C | GRCh38 |
| NC_000006.11:g.35791302G>C , CM000668.1:g.35791302G>C | GRCh37 |
| NC_000006.10:g.35899280G>C | NCBI36 |
| NG_012184.1:g.23232G>C | |
| NG_012184.2:g.23232G>C | |
| NG_012184.3:g.31320G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360215.3:c.*560G>C MANE Select | ENSP00000353346.1:n.*560G>C | |
| ENST00000496656.2:n.578+3705G>C | ||
| ENST00000651132.1:c.*560G>C | ENSP00000498322.1:n.*560G>C | |
| ENST00000651676.1:c.*16+4062G>C | ENSP00000498699.1:n.*16+4062G>C | |
| ENST00000651994.1:c.*640G>C | ENSP00000498310.1:n.*640G>C | |
| ENST00000652718.1:c.508+4062G>C | ENSP00000498866.1:n.508+4062G>C | |
| ENST00000360215.2:c.*560G>C | ENSP00000353346.1:n.*560G>C | |
| ENST00000496656.1:n.812+3705G>C | ||
| NM_182548.3:c.*560G>C | NP_872354.1:n.*560G>C | |
| NM_182548.4:c.*560G>C MANE Select | NP_872354.1:n.*560G>C |