Linked Data
dbSNP Id:
rs1336946263
gnomAD v2:
6-35782617-G-T
gnomAD v3:
6-35814840-G-T
gnomAD v4:
6-35814840-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35814840G>T , CM000668.2:g.35814840G>T | GRCh38 |
| NC_000006.11:g.35782617G>T , CM000668.1:g.35782617G>T | GRCh37 |
| NC_000006.10:g.35890595G>T | NCBI36 |
| NG_012184.1:g.14547G>T | |
| NG_012184.2:g.14547G>T | |
| NG_012184.3:g.22635G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.649+58G>T MANE Select | ENSP00000353346.1:n.649+58G>T | |
| ENST00000496656.2:n.428+58G>T | ||
| ENST00000651132.1:c.649+58G>T | ENSP00000498322.1:n.649+58G>T | |
| ENST00000651676.1:c.649+58G>T | ENSP00000498699.1:n.649+58G>T | |
| ENST00000651994.1:c.*70-4597G>T | ENSP00000498310.1:n.*70-4597G>T | |
| ENST00000652718.1:c.481+58G>T | ENSP00000498866.1:n.481+58G>T | |
| ENST00000360215.2:c.649+58G>T | ENSP00000353346.1:n.649+58G>T | |
| ENST00000496656.1:n.428+58G>T | ||
| NM_182548.3:c.649+58G>T | NP_872354.1:n.649+58G>T | |
| XM_011514403.1:c.649+58G>T | XP_011512705.1:n.649+58G>T | |
| NM_182548.4:c.649+58G>T MANE Select | NP_872354.1:n.649+58G>T |