Linked Data
ClinVar Variation Id:
356520
ClinVar RCV Id:
RCV000385426
dbSNP Id:
rs372152238
gnomAD v2:
6-35791223-T-C
gnomAD v3:
6-35823446-T-C
gnomAD v4:
6-35823446-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823446T>C , CM000668.2:g.35823446T>C | GRCh38 |
| NC_000006.11:g.35791223T>C , CM000668.1:g.35791223T>C | GRCh37 |
| NC_000006.10:g.35899201T>C | NCBI36 |
| NG_012184.1:g.23153T>C | |
| NG_012184.2:g.23153T>C | |
| NG_012184.3:g.31241T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360215.3:c.*481T>C MANE Select | ENSP00000353346.1:n.*481T>C | |
| ENST00000496656.2:n.578+3626T>C | ||
| ENST00000651132.1:c.*481T>C | ENSP00000498322.1:n.*481T>C | |
| ENST00000651676.1:c.*16+3983T>C | ENSP00000498699.1:n.*16+3983T>C | |
| ENST00000651994.1:c.*561T>C | ENSP00000498310.1:n.*561T>C | |
| ENST00000652718.1:c.508+3983T>C | ENSP00000498866.1:n.508+3983T>C | |
| ENST00000360215.2:c.*481T>C | ENSP00000353346.1:n.*481T>C | |
| ENST00000496656.1:n.812+3626T>C | ||
| NM_182548.3:c.*481T>C | NP_872354.1:n.*481T>C | |
| NM_182548.4:c.*481T>C MANE Select | NP_872354.1:n.*481T>C |