Linked Data
dbSNP Id:
rs1248029859
gnomAD v2:
X-153607603-C-A
gnomAD v3:
X-154379243-C-A
gnomAD v4:
X-154379243-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379243C>A , CM000685.2:g.154379243C>A | GRCh38 |
| NC_000023.10:g.153607603C>A , CM000685.1:g.153607603C>A | GRCh37 |
| NC_000023.9:g.153260797C>A | NCBI36 |
| NG_008677.1:g.9808C>A , LRG_745:g.9808C>A | |
| NG_011506.1:g.404G>T | |
| NG_011506.2:g.396G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369842.8:c.-242C>A | ENSP00000358857.4:n.-242C>A | |
| NM_000117.2:c.-242C>A , LRG_745t1:c.-242C>A | NP_000108.1:n.-242C>A | |
| XM_024452349.1:c.-450C>A | XP_024308117.1:n.-450C>A |