Linked Data
gnomAD v4:
X-22032907-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22032907A>C , CM000685.2:g.22032907A>C | GRCh38 |
| NC_000023.10:g.22051025A>C , CM000685.1:g.22051025A>C | GRCh37 |
| NC_000023.9:g.21960946A>C | NCBI36 |
| NG_007563.2:g.5105A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.328A>C | ||
| ENST00000683214.1:n.328A>C | ||
| ENST00000684143.1:c.-99A>C | ENSP00000508264.1:n.-99A>C | |
| ENST00000379374.5:c.-99A>C MANE Select | ENSP00000368682.4:n.-99A>C | |
| ENST00000379374.4:c.-99A>C | ENSP00000368682.4:n.-99A>C | |
| NM_000444.5:c.-99A>C | NP_000435.3:n.-99A>C | |
| NM_001282754.1:c.-99A>C | NP_001269683.1:n.-99A>C | |
| XM_011545535.1:c.-99A>C | XP_011543837.1:n.-99A>C | |
| XR_001755695.1:n.581A>C | ||
| NM_000444.6:c.-99A>C MANE Select | NP_000435.3:n.-99A>C | |
| NM_001282754.2:c.-99A>C | NP_001269683.1:n.-99A>C |