Linked Data
gnomAD v4:
12-5045036-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045036G>A , CM000674.2:g.5045036G>A | GRCh38 |
| NC_000012.11:g.5154202G>A , CM000674.1:g.5154202G>A | GRCh37 |
| NC_000012.10:g.5024463G>A | NCBI36 |
| NG_012198.1:g.6118G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.889G>A MANE Select | ENSP00000252321.3:p.Gly297Arg | |
| ENST00000252321.4:c.889G>A | ENSP00000252321.3:p.Gly297Arg | |
| NM_002234.3:c.889G>A | NP_002225.2:p.Gly297Arg | |
| NM_002234.4:c.889G>A MANE Select | NP_002225.2:p.Gly297Arg |