Linked Data
dbSNP Id:
rs1039431797
gnomAD v2:
X-138644290-A-G
gnomAD v3:
X-139562131-A-G
gnomAD v4:
X-139562131-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139562131A>G , CM000685.2:g.139562131A>G | GRCh38 |
| NC_000023.10:g.138644290A>G , CM000685.1:g.138644290A>G | GRCh37 |
| NC_000023.9:g.138471956A>G | NCBI36 |
| NG_007994.1:g.36396A>G , LRG_556:g.36396A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.*60A>G MANE Select | ENSP00000218099.2:n.*60A>G | |
| ENST00000643157.1:n.1723+390A>G | ||
| ENST00000218099.6:c.*60A>G | ENSP00000218099.2:n.*60A>G | |
| NM_000133.3:c.*60A>G , LRG_556t1:c.*60A>G | NP_000124.1:n.*60A>G | |
| NM_001313913.1:c.*60A>G | NP_001300842.1:n.*60A>G | |
| XM_005262397.3:c.*60A>G | XP_005262454.1:n.*60A>G | |
| XM_005262397.4:c.*60A>G | XP_005262454.1:n.*60A>G | |
| NM_000133.4:c.*60A>G MANE Select | NP_000124.1:n.*60A>G | |
| NM_001313913.2:c.*60A>G | NP_001300842.1:n.*60A>G |