Linked Data
gnomAD v4:
11-61392367-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61392367C>A , CM000673.2:g.61392367C>A | GRCh38 |
| NC_000011.9:g.61159839C>A , CM000673.1:g.61159839C>A | GRCh37 |
| NC_000011.8:g.60916415C>A | NCBI36 |
| NG_032976.1:g.5008C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.9:c.-265C>A | ENSP00000334844.5:n.-265C>A | |
| ENST00000515837.6:c.-265C>A | ENSP00000440638.1:n.-265C>A | |
| NM_001173990.2:c.-265C>A | NP_001167461.1:n.-265C>A | |
| NM_001173991.2:c.-265C>A | NP_001167462.1:n.-265C>A | |
| XM_005274039.3:c.-596C>A | XP_005274096.1:n.-596C>A | |
| NM_001330285.1:c.-462C>A | NP_001317214.1:n.-462C>A | |
| XM_005274039.4:c.-596C>A | XP_005274096.1:n.-596C>A |