Linked Data
dbSNP Id:
rs116479715
gnomAD v2:
13-31312886-C-T
gnomAD v3:
13-30738749-C-T
gnomAD v4:
13-30738749-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30738749C>T , CM000675.2:g.30738749C>T | GRCh38 |
| NC_000013.10:g.31312886C>T , CM000675.1:g.31312886C>T | GRCh37 |
| NC_000013.9:g.30210886C>T | NCBI36 |
| NG_011963.2:g.30272C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380490.5:c.70+3074C>T MANE Select | ENSP00000369858.3:n.70+3074C>T | |
| ENST00000380490.4:c.70+3074C>T | ENSP00000369858.3:n.70+3074C>T | |
| ENST00000617770.4:c.241+3074C>T | ENSP00000479870.1:n.241+3074C>T | |
| NM_001204406.1:c.241+3074C>T | NP_001191335.1:n.241+3074C>T | |
| NM_001629.3:c.70+3074C>T | NP_001620.2:n.70+3074C>T | |
| XM_011535024.1:c.70+3074C>T | XP_011533326.1:n.70+3074C>T | |
| NM_001204406.2:c.241+3074C>T | NP_001191335.1:n.241+3074C>T | |
| NM_001629.4:c.70+3074C>T MANE Select | NP_001620.2:n.70+3074C>T |