Linked Data
gnomAD v4:
4-46993550-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46993550C>G , CM000666.2:g.46993550C>G | GRCh38 |
| NC_000004.11:g.46995567C>G , CM000666.1:g.46995567C>G | GRCh37 |
| NC_000004.10:g.46690324C>G | NCBI36 |
| NG_011809.1:g.5014G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.-126G>C MANE Select | ENSP00000264318.3:n.-126G>C | |
| ENST00000264318.3:c.-126G>C | ENSP00000264318.3:n.-126G>C | |
| NM_000809.3:c.-126G>C | NP_000800.2:n.-126G>C | |
| XM_011513677.1:c.-126G>C | XP_011511979.1:n.-126G>C | |
| NM_000809.4:c.-126G>C MANE Select | NP_000800.2:n.-126G>C | |
| NM_001204266.2:c.-115G>C | NP_001191195.1:n.-115G>C | |
| NM_001204267.2:c.-115G>C | NP_001191196.1:n.-115G>C |