Linked Data
gnomAD v4:
11-124872531-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124872531G>A , CM000673.2:g.124872531G>A | GRCh38 |
| NC_000011.9:g.124742427G>A , CM000673.1:g.124742427G>A | GRCh37 |
| NC_000011.8:g.124247637G>A | NCBI36 |
| NG_016214.1:g.12123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.1309G>A MANE Select | ENSP00000380903.1:p.Ala437Thr | |
| ENST00000397801.5:c.1309G>A | ENSP00000380903.1:p.Ala437Thr | |
| ENST00000538940.5:c.1243G>A | ENSP00000441797.1:p.Ala415Thr | |
| NM_022370.3:c.1309G>A | NP_071765.2:p.Ala437Thr | |
| XM_011542953.1:c.2281G>A | XP_011541255.1:p.Ala761Thr | |
| XM_017018122.1:c.1243G>A | XP_016873611.1:p.Ala415Thr | |
| NM_022370.4:c.1309G>A MANE Select | NP_071765.2:p.Ala437Thr |