Linked Data
gnomAD v4:
12-6022117-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6022117C>T , CM000674.2:g.6022117C>T | GRCh38 |
| NC_000012.11:g.6131283C>T , CM000674.1:g.6131283C>T | GRCh37 |
| NC_000012.10:g.6001544C>T | NCBI36 |
| NG_009072.1:g.107554G>A | |
| NG_009072.2:g.107554G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3539-82G>A MANE Select | ENSP00000261405.5:n.3539-82G>A | |
| ENST00000261405.9:c.3539-82G>A | ENSP00000261405.5:n.3539-82G>A | |
| ENST00000538635.5:n.421-28183G>A | ||
| NM_000552.3:c.3539-82G>A | NP_000543.2:n.3539-82G>A | |
| NM_000552.4:c.3539-82G>A | NP_000543.2:n.3539-82G>A | |
| NM_000552.5:c.3539-82G>A MANE Select | NP_000543.3:n.3539-82G>A |