Linked Data
dbSNP Id:
rs186616567
gnomAD v3:
X-139562081-G-A
gnomAD v4:
X-139562081-G-A
COSMIC:
COSN24403947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139562081G>A , CM000685.2:g.139562081G>A | GRCh38 |
| NC_000023.10:g.138644240G>A , CM000685.1:g.138644240G>A | GRCh37 |
| NC_000023.9:g.138471906G>A | NCBI36 |
| NG_007994.1:g.36346G>A , LRG_556:g.36346G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.*10G>A MANE Select | ENSP00000218099.2:n.*10G>A | |
| ENST00000643157.1:n.1723+340G>A | ||
| ENST00000218099.6:c.*10G>A | ENSP00000218099.2:n.*10G>A | |
| NM_000133.3:c.*10G>A , LRG_556t1:c.*10G>A | NP_000124.1:n.*10G>A | |
| NM_001313913.1:c.*10G>A | NP_001300842.1:n.*10G>A | |
| XM_005262397.3:c.*10G>A | XP_005262454.1:n.*10G>A | |
| XM_005262397.4:c.*10G>A | XP_005262454.1:n.*10G>A | |
| NM_000133.4:c.*10G>A MANE Select | NP_000124.1:n.*10G>A | |
| NM_001313913.2:c.*10G>A | NP_001300842.1:n.*10G>A |