Linked Data
gnomAD v4:
20-46118267-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46118267G>C , CM000682.2:g.46118267G>C | GRCh38 |
| NC_000020.10:g.44746906G>C , CM000682.1:g.44746906G>C | GRCh37 |
| NC_000020.9:g.44180313G>C | NCBI36 |
| NG_007279.1:g.5001G>C , LRG_40:g.5001G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001250.5:c.-77G>C | NP_001241.1:n.-77G>C | |
| NM_001302753.1:c.-77G>C | NP_001289682.1:n.-77G>C | |
| NM_152854.3:c.-77G>C | NP_690593.1:n.-77G>C | |
| NR_126502.1:n.14G>C | ||
| XM_005260617.2:c.-77G>C | XP_005260674.1:n.-77G>C | |
| XM_005260619.2:c.-77G>C | XP_005260676.1:n.-77G>C | |
| XM_011529109.1:c.-77G>C | XP_011527411.1:n.-77G>C | |
| XR_936660.1:n.18G>C | ||
| NM_001322421.1:c.-77G>C | NP_001309350.1:n.-77G>C | |
| NM_001322422.1:c.-77G>C | NP_001309351.1:n.-77G>C | |
| NM_001362758.1:c.-77G>C | NP_001349687.1:n.-77G>C | |
| NR_136327.1:n.14G>C | ||
| XM_005260619.3:c.-77G>C | XP_005260676.1:n.-77G>C | |
| XM_011529109.2:c.-77G>C | XP_011527411.1:n.-77G>C | |
| XM_017028135.1:c.-77G>C | XP_016883624.1:n.-77G>C | |
| XM_017028136.1:c.-77G>C | XP_016883625.1:n.-77G>C |