Linked Data
ClinVar Variation Id:
356495
ClinVar RCV Id:
RCV000365622
dbSNP Id:
rs189788458
gnomAD v2:
6-35790973-G-C
gnomAD v3:
6-35823196-G-C
gnomAD v4:
6-35823196-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823196G>C , CM000668.2:g.35823196G>C | GRCh38 |
| NC_000006.11:g.35790973G>C , CM000668.1:g.35790973G>C | GRCh37 |
| NC_000006.10:g.35898951G>C | NCBI36 |
| NG_012184.1:g.22903G>C | |
| NG_012184.2:g.22903G>C | |
| NG_012184.3:g.30991G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360215.3:c.*231G>C MANE Select | ENSP00000353346.1:n.*231G>C | |
| ENST00000496656.2:n.578+3376G>C | ||
| ENST00000651132.1:c.*231G>C | ENSP00000498322.1:n.*231G>C | |
| ENST00000651676.1:c.*16+3733G>C | ENSP00000498699.1:n.*16+3733G>C | |
| ENST00000651994.1:c.*311G>C | ENSP00000498310.1:n.*311G>C | |
| ENST00000652718.1:c.508+3733G>C | ENSP00000498866.1:n.508+3733G>C | |
| ENST00000360215.2:c.*231G>C | ENSP00000353346.1:n.*231G>C | |
| ENST00000496656.1:n.812+3376G>C | ||
| NM_182548.3:c.*231G>C | NP_872354.1:n.*231G>C | |
| XM_011514403.1:c.*231G>C | XP_011512705.1:n.*231G>C | |
| NM_182548.4:c.*231G>C MANE Select | NP_872354.1:n.*231G>C |