Linked Data
dbSNP Id:
rs8000245
gnomAD v2:
13-74730392-C-T
gnomAD v3:
13-74156255-C-T
gnomAD v4:
13-74156255-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.74156255C>T , CM000675.2:g.74156255C>T | GRCh38 |
| NC_000013.10:g.74730392C>T , CM000675.1:g.74730392C>T | GRCh37 |
| NC_000013.9:g.73628393C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011534909.1:c.-32+11894G>A | XP_011533211.1:n.-32+11894G>A | |
| XM_011534909.2:c.-32+11894G>A | XP_011533211.1:n.-32+11894G>A | |
| NM_001400139.1:c.-32+149741G>A | NP_001387068.1:n.-32+149741G>A | |
| NM_001400153.1:c.-32+149741G>A | NP_001387082.1:n.-32+149741G>A |