Linked Data
dbSNP Id:
rs12046178
gnomAD v2:
1-54572175-T-C
gnomAD v3:
1-54106502-T-C
gnomAD v4:
1-54106502-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54106502T>C , CM000663.2:g.54106502T>C | GRCh38 |
| NC_000001.10:g.54572175T>C , CM000663.1:g.54572175T>C | GRCh37 |
| NC_000001.9:g.54344763T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648983.1:c.*372-4550T>C | ENSP00000498109.1:n.*372-4550T>C | |
| ENST00000498272.1:n.1071-4550T>C | ||
| NR_130900.1:n.1086-4550T>C | ||
| XM_017000293.1:c.439-4550T>C | XP_016855782.1:n.439-4550T>C | |
| NR_130900.2:n.1050-4550T>C |