Linked Data
dbSNP Id:
rs1343651875
gnomAD v2:
X-138630496-G-A
gnomAD v3:
X-139548337-G-A
gnomAD v4:
X-139548337-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139548337G>A , CM000685.2:g.139548337G>A | GRCh38 |
| NC_000023.10:g.138630496G>A , CM000685.1:g.138630496G>A | GRCh37 |
| NC_000023.9:g.138458162G>A | NCBI36 |
| NG_007994.1:g.22602G>A , LRG_556:g.22602G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.392-26G>A MANE Select | ENSP00000218099.2:n.392-26G>A | |
| ENST00000643157.1:n.1059-26G>A | ||
| ENST00000218099.6:c.392-26G>A | ENSP00000218099.2:n.392-26G>A | |
| ENST00000394090.2:c.278-26G>A | ENSP00000377650.2:n.278-26G>A | |
| ENST00000479617.2:n.345-26G>A | ||
| NM_000133.3:c.392-26G>A , LRG_556t1:c.392-26G>A | NP_000124.1:n.392-26G>A | |
| NM_001313913.1:c.278-26G>A | NP_001300842.1:n.278-26G>A | |
| XM_005262397.3:c.392-2725G>A | XP_005262454.1:n.392-2725G>A | |
| XM_005262397.4:c.392-2725G>A | XP_005262454.1:n.392-2725G>A | |
| NM_000133.4:c.392-26G>A MANE Select | NP_000124.1:n.392-26G>A | |
| NM_001313913.2:c.278-26G>A | NP_001300842.1:n.278-26G>A |