Linked Data
gnomAD v4:
5-80675255-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80675255C>A , CM000667.2:g.80675255C>A | GRCh38 |
| NC_000005.9:g.79971074C>A , CM000667.1:g.79971074C>A | GRCh37 |
| NC_000005.8:g.80006830C>A | NCBI36 |
| NG_016607.1:g.25781C>A | |
| NG_016607.2:g.25781C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1173+127C>A MANE Select | ENSP00000265081.6:n.1173+127C>A | |
| ENST00000658259.1:c.1005+127C>A | ENSP00000499617.1:n.1005+127C>A | |
| ENST00000667069.1:c.1173+127C>A | ENSP00000499502.1:n.1173+127C>A | |
| ENST00000670357.1:c.1173+127C>A | ENSP00000499791.1:n.1173+127C>A | |
| ENST00000265081.6:c.1173+127C>A | ENSP00000265081.6:n.1173+127C>A | |
| NM_002439.4:c.1173+127C>A | NP_002430.3:n.1173+127C>A | |
| NM_002439.5:c.1173+127C>A MANE Select | NP_002430.3:n.1173+127C>A |