Linked Data
gnomAD v4:
12-123630215-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123630215C>T , CM000674.2:g.123630215C>T | GRCh38 |
| NC_000012.11:g.124114762C>T , CM000674.1:g.124114762C>T | GRCh37 |
| NC_000012.10:g.122680715C>T | NCBI36 |
| NG_015862.1:g.8562G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424014.7:c.323G>A MANE Select | ENSP00000416250.2:p.Arg108Lys | |
| ENST00000424014.6:c.323G>A | ENSP00000416250.2:p.Arg108Lys | |
| ENST00000452159.6:n.454G>A | ||
| ENST00000534960.5:c.370G>A | ||
| ENST00000537073.1:c.323G>A | ENSP00000444183.1:p.Arg108Lys | |
| ENST00000539951.5:c.284G>A | ENSP00000438060.1:p.Arg95Lys | |
| NM_001414.3:c.323G>A | NP_001405.1:p.Arg108Lys | |
| NM_001414.4:c.323G>A MANE Select | NP_001405.1:p.Arg108Lys |