Linked Data
dbSNP Id:
rs1039754956
gnomAD v2:
6-35791621-T-C
gnomAD v3:
6-35823844-T-C
gnomAD v4:
6-35823844-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823844T>C , CM000668.2:g.35823844T>C | GRCh38 |
| NC_000006.11:g.35791621T>C , CM000668.1:g.35791621T>C | GRCh37 |
| NC_000006.10:g.35899599T>C | NCBI36 |
| NG_012184.1:g.23551T>C | |
| NG_012184.2:g.23551T>C | |
| NG_012184.3:g.31639T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*879T>C MANE Select | ENSP00000353346.1:n.*879T>C | |
| ENST00000496656.2:n.578+4024T>C | ||
| ENST00000651132.1:c.*879T>C | ENSP00000498322.1:n.*879T>C | |
| ENST00000651676.1:c.*16+4381T>C | ENSP00000498699.1:n.*16+4381T>C | |
| ENST00000651994.1:c.*959T>C | ENSP00000498310.1:n.*959T>C | |
| ENST00000652718.1:c.508+4381T>C | ENSP00000498866.1:n.508+4381T>C | |
| ENST00000360215.2:c.*879T>C | ENSP00000353346.1:n.*879T>C | |
| ENST00000496656.1:n.812+4024T>C | ||
| NM_182548.3:c.*879T>C | NP_872354.1:n.*879T>C | |
| NM_182548.4:c.*879T>C MANE Select | NP_872354.1:n.*879T>C |