Linked Data
gnomAD v4:
4-177442502-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442502C>A , CM000666.2:g.177442502C>A | GRCh38 |
| NC_000004.11:g.178363656C>A , CM000666.1:g.178363656C>A | GRCh37 |
| NC_000004.10:g.178600650C>A | NCBI36 |
| NG_011845.2:g.5002G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.6:c.-127G>T (AGA) | ENSP00000264595.2:n.-127G>T | |
| NM_000027.3:c.-127G>T (AGA) | NP_000018.2:n.-127G>T | |
| NM_001171988.1:c.-127G>T (AGA) | NP_001165459.1:n.-127G>T | |
| NR_033655.1:n.2G>T (AGA) | ||
| XM_006714123.2:c.-127G>T (AGA) | XP_006714186.1:n.-127G>T | |
| XR_001741929.1:n.3C>A (AGA-DT) |