Linked Data
dbSNP Id:
rs556100781
gnomAD v2:
3-183853136-C-T
gnomAD v3:
3-184135348-C-T
gnomAD v4:
3-184135348-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184135348C>T , CM000665.2:g.184135348C>T | GRCh38 |
| NC_000003.11:g.183853136C>T , CM000665.1:g.183853136C>T | GRCh37 |
| NC_000003.10:g.185335830C>T | NCBI36 |
| NG_015826.1:g.5327C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649814.1:n.12C>T | ||
| ENST00000273783.7:c.-38C>T | ENSP00000273783.3:n.-38C>T | |
| ENST00000491144.5:n.311C>T | ||
| NM_003907.2:c.-38C>T | NP_003898.2:n.-38C>T | |
| XR_924208.1:n.914C>T | ||
| XR_001740352.2:n.326C>T | ||
| XR_001740353.2:n.326C>T | ||
| XR_924208.2:n.326C>T |