Linked Data
dbSNP Id:
rs1165678034
gnomAD v2:
4-178363584-G-C
gnomAD v3:
4-177442430-G-C
gnomAD v4:
4-177442430-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442430G>C , CM000666.2:g.177442430G>C | GRCh38 |
| NC_000004.11:g.178363584G>C , CM000666.1:g.178363584G>C | GRCh37 |
| NC_000004.10:g.178600578G>C | NCBI36 |
| NG_011845.2:g.5074C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.-55C>G MANE Select | ENSP00000264595.2:n.-55C>G | |
| ENST00000264595.6:c.-55C>G | ENSP00000264595.2:n.-55C>G | |
| NM_000027.3:c.-55C>G | NP_000018.2:n.-55C>G | |
| NM_001171988.1:c.-55C>G | NP_001165459.1:n.-55C>G | |
| NR_033655.1:n.74C>G | ||
| XM_006714123.2:c.-55C>G | XP_006714186.1:n.-55C>G | |
| XR_001741155.2:n.40C>G | ||
| NM_000027.4:c.-55C>G MANE Select | NP_000018.2:n.-55C>G | |
| NM_001171988.2:c.-55C>G | NP_001165459.1:n.-55C>G | |
| NR_033655.2:n.8C>G |