Linked Data
gnomAD v4:
10-80280292-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80280292C>G , CM000672.2:g.80280292C>G | GRCh38 |
| NC_000010.10:g.82040048C>G , CM000672.1:g.82040048C>G | GRCh37 |
| NC_000010.9:g.82030028C>G | NCBI36 |
| NG_008083.1:g.14387G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.430G>C MANE Select | ENSP00000361287.3:p.Asp144His | |
| ENST00000372213.7:c.430G>C | ENSP00000361287.3:p.Asp144His | |
| ENST00000455001.1:c.241G>C | ENSP00000414961.1:p.Asp81His | |
| NM_000429.2:c.430G>C | NP_000420.1:p.Asp144His | |
| XM_005269842.3:c.430G>C | XP_005269899.1:p.Asp144His | |
| XM_005269843.3:c.307G>C | XP_005269900.1:p.Asp103His | |
| NM_000429.3:c.430G>C MANE Select | NP_000420.1:p.Asp144His |