Linked Data
gnomAD v4:
11-113475393-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113475393G>T , CM000673.2:g.113475393G>T | GRCh38 |
| NC_000011.9:g.113346115G>T , CM000673.1:g.113346115G>T | GRCh37 |
| NC_000011.8:g.112851325G>T | NCBI36 |
| NG_008841.1:g.4887C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.-349C>A MANE Select | ENSP00000354859.3:n.-349C>A | |
| ENST00000540600.5:n.34+265C>A | ||
| NM_000795.4:c.-349C>A MANE Select | NP_000786.1:n.-349C>A | |
| NM_016574.4:c.-349C>A | NP_057658.2:n.-349C>A |