Linked Data
gnomAD v4:
11-61392505-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61392505G>C , CM000673.2:g.61392505G>C | GRCh38 |
| NC_000011.9:g.61159977G>C , CM000673.1:g.61159977G>C | GRCh37 |
| NC_000011.8:g.60916553G>C | NCBI36 |
| NG_032976.1:g.5146G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.9:c.-127G>C | ENSP00000334844.5:n.-127G>C | |
| ENST00000398979.7:c.-324G>C | ENSP00000381950.3:n.-324G>C | |
| ENST00000515837.6:c.-127G>C | ENSP00000440638.1:n.-127G>C | |
| NM_001173990.2:c.-127G>C | NP_001167461.1:n.-127G>C | |
| NM_001173991.2:c.-127G>C | NP_001167462.1:n.-127G>C | |
| NM_016499.5:c.-324G>C | NP_057583.2:n.-324G>C | |
| XM_005274039.3:c.-458G>C | XP_005274096.1:n.-458G>C | |
| NM_001330285.1:c.-324G>C | NP_001317214.1:n.-324G>C | |
| XM_005274039.4:c.-458G>C | XP_005274096.1:n.-458G>C |