Linked Data
gnomAD v4:
2-47403087-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403087C>A , CM000664.2:g.47403087C>A | GRCh38 |
| NC_000002.11:g.47630226C>A , CM000664.1:g.47630226C>A | GRCh37 |
| NC_000002.10:g.47483730C>A | NCBI36 |
| NG_007110.2:g.4964C>A , LRG_218:g.4964C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543555.6:c.-119C>A | ENSP00000442697.1:n.-119C>A | |
| ENST00000233146.6:c.-105C>A | ENSP00000233146.2:n.-105C>A | |
| ENST00000454849.5:c.-119C>A | ENSP00000411482.1:n.-119C>A | |
| ENST00000543555.5:c.-119C>A | ENSP00000442697.1:n.-119C>A | |
| NM_000251.2:c.-105C>A , LRG_218t1:c.-105C>A | NP_000242.1:n.-105C>A | |
| NM_001258281.1:c.-119C>A | NP_001245210.1:n.-119C>A |