Linked Data
dbSNP Id:
rs1466373860
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403082G>C , CM000664.2:g.47403082G>C | GRCh38 |
| NC_000002.11:g.47630221G>C , CM000664.1:g.47630221G>C | GRCh37 |
| NC_000002.10:g.47483725G>C | NCBI36 |
| NG_007110.2:g.4959G>C , LRG_218:g.4959G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543555.6:c.-124G>C | ENSP00000442697.1:n.-124G>C | |
| ENST00000233146.6:c.-110G>C | ENSP00000233146.2:n.-110G>C | |
| ENST00000454849.5:c.-124G>C | ENSP00000411482.1:n.-124G>C | |
| ENST00000543555.5:c.-124G>C | ENSP00000442697.1:n.-124G>C | |
| NM_000251.2:c.-110G>C , LRG_218t1:c.-110G>C | NP_000242.1:n.-110G>C | |
| NM_001258281.1:c.-124G>C | NP_001245210.1:n.-124G>C |