Linked Data
dbSNP Id:
rs1471002671
gnomAD v2:
6-35791458-A-C
gnomAD v3:
6-35823681-A-C
gnomAD v4:
6-35823681-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823681A>C , CM000668.2:g.35823681A>C | GRCh38 |
| NC_000006.11:g.35791458A>C , CM000668.1:g.35791458A>C | GRCh37 |
| NC_000006.10:g.35899436A>C | NCBI36 |
| NG_012184.1:g.23388A>C | |
| NG_012184.2:g.23388A>C | |
| NG_012184.3:g.31476A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*716A>C MANE Select | ENSP00000353346.1:n.*716A>C | |
| ENST00000496656.2:n.578+3861A>C | ||
| ENST00000651132.1:c.*716A>C | ENSP00000498322.1:n.*716A>C | |
| ENST00000651676.1:c.*16+4218A>C | ENSP00000498699.1:n.*16+4218A>C | |
| ENST00000651994.1:c.*796A>C | ENSP00000498310.1:n.*796A>C | |
| ENST00000652718.1:c.508+4218A>C | ENSP00000498866.1:n.508+4218A>C | |
| ENST00000360215.2:c.*716A>C | ENSP00000353346.1:n.*716A>C | |
| ENST00000496656.1:n.812+3861A>C | ||
| NM_182548.3:c.*716A>C | NP_872354.1:n.*716A>C | |
| NM_182548.4:c.*716A>C MANE Select | NP_872354.1:n.*716A>C |