Linked Data
gnomAD v4:
4-55125324-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125324A>C , CM000666.2:g.55125324A>C | GRCh38 |
| NC_000004.11:g.55991491A>C , CM000666.1:g.55991491A>C | GRCh37 |
| NC_000004.10:g.55686248A>C | NCBI36 |
| NG_012004.1:g.5272T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.-31T>G MANE Select | ENSP00000263923.4:n.-31T>G | |
| ENST00000263923.4:c.-31T>G | ENSP00000263923.4:n.-31T>G | |
| NM_002253.2:c.-31T>G | NP_002244.1:n.-31T>G | |
| NM_002253.3:c.-31T>G | NP_002244.1:n.-31T>G | |
| NM_002253.4:c.-31T>G MANE Select | NP_002244.1:n.-31T>G |