Linked Data
dbSNP Id:
rs901989842
gnomAD v2:
X-138633088-T-G
gnomAD v3:
X-139550929-T-G
gnomAD v4:
X-139550929-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139550929T>G , CM000685.2:g.139550929T>G | GRCh38 |
| NC_000023.10:g.138633088T>G , CM000685.1:g.138633088T>G | GRCh37 |
| NC_000023.9:g.138460754T>G | NCBI36 |
| NG_007994.1:g.25194T>G , LRG_556:g.25194T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.521-133T>G MANE Select | ENSP00000218099.2:n.521-133T>G | |
| ENST00000643157.1:n.1188-133T>G | ||
| ENST00000218099.6:c.521-133T>G | ENSP00000218099.2:n.521-133T>G | |
| ENST00000394090.2:c.407-133T>G | ENSP00000377650.2:n.407-133T>G | |
| NM_000133.3:c.521-133T>G , LRG_556t1:c.521-133T>G | NP_000124.1:n.521-133T>G | |
| NM_001313913.1:c.407-133T>G | NP_001300842.1:n.407-133T>G | |
| XM_005262397.3:c.392-133T>G | XP_005262454.1:n.392-133T>G | |
| XM_005262397.4:c.392-133T>G | XP_005262454.1:n.392-133T>G | |
| NM_000133.4:c.521-133T>G MANE Select | NP_000124.1:n.521-133T>G | |
| NM_001313913.2:c.407-133T>G | NP_001300842.1:n.407-133T>G |