Linked Data
dbSNP Id:
rs367745138
gnomAD v2:
15-59042104-C-T
gnomAD v3:
15-58749905-C-T
gnomAD v4:
15-58749905-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58749905C>T , CM000677.2:g.58749905C>T | GRCh38 |
| NC_000015.9:g.59042104C>T , CM000677.1:g.59042104C>T | GRCh37 |
| NC_000015.8:g.56829396C>T | NCBI36 |
| NG_033876.1:g.5074G>A | |
| NG_033876.2:g.4803G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260408.7:c.-371G>A | ENSP00000260408.3:n.-371G>A | |
| NM_001110.3:c.-371G>A | NP_001101.1:n.-371G>A | |
| NM_001320570.1:c.-371G>A | NP_001307499.1:n.-371G>A |