Linked Data
gnomAD v4:
10-80275068-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275068C>A , CM000672.2:g.80275068C>A | GRCh38 |
| NC_000010.10:g.82034824C>A , CM000672.1:g.82034824C>A | GRCh37 |
| NC_000010.9:g.82024804C>A | NCBI36 |
| NG_008083.1:g.19611G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.900G>T MANE Select | ENSP00000361287.3:p.Trp300Cys | |
| ENST00000372213.7:c.900G>T | ENSP00000361287.3:p.Trp300Cys | |
| ENST00000480845.1:n.132G>T | ||
| ENST00000485270.5:n.412G>T | ||
| NM_000429.2:c.900G>T | NP_000420.1:p.Trp300Cys | |
| XM_005269842.3:c.900G>T | XP_005269899.1:p.Trp300Cys | |
| XM_005269843.3:c.777G>T | XP_005269900.1:p.Trp259Cys | |
| NM_000429.3:c.900G>T MANE Select | NP_000420.1:p.Trp300Cys |