Linked Data
gnomAD v4:
1-168291059-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168291059C>A , CM000663.2:g.168291059C>A | GRCh38 |
| NC_000001.10:g.168260297C>A , CM000663.1:g.168260297C>A | GRCh37 |
| NC_000001.9:g.166526921C>A | NCBI36 |
| NG_008244.1:g.15020C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.204-101C>A MANE Select | ENSP00000356795.3:n.204-101C>A | |
| ENST00000367821.7:c.204-101C>A | ENSP00000356795.3:n.204-101C>A | |
| NM_005149.2:c.204-101C>A | NP_005140.1:n.204-101C>A | |
| NM_005149.3:c.204-101C>A MANE Select | NP_005140.1:n.204-101C>A |