Linked Data
dbSNP Id:
rs1031616129
gnomAD v2:
8-48873005-G-C
gnomAD v3:
8-47960445-G-C
gnomAD v4:
8-47960445-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960445G>C , CM000670.2:g.47960445G>C | GRCh38 |
| NC_000008.10:g.48873005G>C , CM000670.1:g.48873005G>C | GRCh37 |
| NC_000008.9:g.49035558G>C | NCBI36 |
| NG_023435.1:g.4739C>G , LRG_162:g.4739C>G | |
| NG_032967.1:g.5243G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+125G>C | ENSP00000430329.1:n.-15+125G>C | |
| NM_005914.3:c.-700G>C | NP_005905.2:n.-700G>C | |
| NM_182746.2:c.-584G>C | NP_877423.1:n.-584G>C | |
| XM_005251234.1:c.-946G>C | XP_005251291.1:n.-946G>C |