Linked Data
gnomAD v4:
11-61392413-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61392413C>A , CM000673.2:g.61392413C>A | GRCh38 |
| NC_000011.9:g.61159885C>A , CM000673.1:g.61159885C>A | GRCh37 |
| NC_000011.8:g.60916461C>A | NCBI36 |
| NG_032976.1:g.5054C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.9:c.-219C>A | ENSP00000334844.5:n.-219C>A | |
| ENST00000398979.7:c.-416C>A | ENSP00000381950.3:n.-416C>A | |
| ENST00000515837.6:c.-219C>A | ENSP00000440638.1:n.-219C>A | |
| NM_001173990.2:c.-219C>A | NP_001167461.1:n.-219C>A | |
| NM_001173991.2:c.-219C>A | NP_001167462.1:n.-219C>A | |
| NM_016499.5:c.-416C>A | NP_057583.2:n.-416C>A | |
| XM_005274039.3:c.-550C>A | XP_005274096.1:n.-550C>A | |
| NM_001330285.1:c.-416C>A | NP_001317214.1:n.-416C>A | |
| XM_005274039.4:c.-550C>A | XP_005274096.1:n.-550C>A |