Linked Data
gnomAD v4:
4-55125356-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125356G>T , CM000666.2:g.55125356G>T | GRCh38 |
| NC_000004.11:g.55991523G>T , CM000666.1:g.55991523G>T | GRCh37 |
| NC_000004.10:g.55686280G>T | NCBI36 |
| NG_012004.1:g.5240C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.-63C>A MANE Select | ENSP00000263923.4:n.-63C>A | |
| ENST00000263923.4:c.-63C>A | ENSP00000263923.4:n.-63C>A | |
| NM_002253.2:c.-63C>A | NP_002244.1:n.-63C>A | |
| NM_002253.3:c.-63C>A | NP_002244.1:n.-63C>A | |
| NM_002253.4:c.-63C>A MANE Select | NP_002244.1:n.-63C>A |