Linked Data
dbSNP Id:
rs1417701074
gnomAD v2:
10-124220504-C-T
gnomAD v3:
10-122460988-C-T
gnomAD v4:
10-122460988-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122460988C>T , CM000672.2:g.122460988C>T | GRCh38 |
| NC_000010.10:g.124220504C>T , CM000672.1:g.124220504C>T | GRCh37 |
| NC_000010.9:g.124210494C>T | NCBI36 |
| NG_011554.1:g.4464C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648167.1:c.154+2279C>T | ENSP00000498033.1:n.154+2279C>T | |
| XR_946382.1:n.371G>A | ||
| XR_946383.1:n.371G>A | ||
| XR_946384.1:n.371G>A | ||
| XR_946385.1:n.371G>A | ||
| XR_946382.2:n.399G>A | ||
| XR_946383.2:n.399G>A | ||
| XR_946384.2:n.375G>A | ||
| XR_946385.2:n.399G>A |