Linked Data
dbSNP Id:
rs189969999
gnomAD v2:
X-47447827-C-T
gnomAD v3:
X-47588428-C-T
gnomAD v4:
X-47588428-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47588428C>T , CM000685.2:g.47588428C>T | GRCh38 |
| NC_000023.10:g.47447827C>T , CM000685.1:g.47447827C>T | GRCh37 |
| NC_000023.9:g.47332771C>T | NCBI36 |
| NG_008437.1:g.36430G>A | |
| NG_012533.1:g.11138C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.775-10927G>A MANE Select | ENSP00000295987.7:n.775-10927G>A | |
| ENST00000340666.5:c.775-10927G>A | ENSP00000343206.4:n.775-10927G>A | |
| ENST00000295987.11:c.775-10927G>A | ENSP00000295987.7:n.775-10927G>A | |
| ENST00000340666.4:c.775-10927G>A | ENSP00000343206.4:n.775-10927G>A | |
| NM_006950.3:c.775-10927G>A MANE Select | NP_008881.2:n.775-10927G>A | |
| NM_133499.2:c.775-10927G>A | NP_598006.1:n.775-10927G>A |