Linked Data
ClinVar Variation Id:
379873
ClinVar RCV Id:
RCV000435190
dbSNP Id:
rs1057520765
gnomAD v4:
X-85981793-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85981793C>A , CM000685.2:g.85981793C>A | GRCh38 |
| NC_000023.10:g.85236797C>A , CM000685.1:g.85236797C>A | GRCh37 |
| NC_000023.9:g.85123453C>A | NCBI36 |
| NG_009874.2:g.70770G>T , LRG_699:g.70770G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357749.7:c.133G>T MANE Select | ENSP00000350386.2:p.Gly45Ter | |
| ENST00000357749.6:c.133G>T | ENSP00000350386.2:p.Gly45Ter | |
| ENST00000467744.2:n.126+45698G>T | ||
| ENST00000487515.1:n.17G>T | ||
| ENST00000615443.1:c.133G>T | ENSP00000484306.1:p.Gly45Ter | |
| NM_000390.2:c.133G>T , LRG_699t1:c.133G>T | NP_000381.1:p.Gly45Ter | |
| NM_001145414.2:c.133G>T , LRG_699t2:c.133G>T | NP_001138886.1:p.Gly45Ter | |
| XM_006724615.2:c.70G>T | XP_006724678.1:p.Gly24Ter | |
| XM_011530839.1:c.-312G>T | XP_011529141.1:n.-312G>T | |
| NM_000390.3:c.133G>T | NP_000381.1:p.Gly45Ter | |
| NM_001145414.3:c.133G>T | NP_001138886.1:p.Gly45Ter | |
| NM_001320959.1:c.-312G>T | NP_001307888.1:n.-312G>T | |
| NM_001362517.1:c.-312G>T | NP_001349446.1:n.-312G>T | |
| NM_001362518.1:c.-308G>T | NP_001349447.1:n.-308G>T | |
| NM_001362519.1:c.-308G>T | NP_001349448.1:n.-308G>T | |
| XM_017029242.2:c.133G>T | XP_016884731.1:p.Gly45Ter | |
| XM_017029246.1:c.-308G>T | XP_016884735.1:n.-308G>T | |
| XM_024452331.1:c.-312G>T | XP_024308099.1:n.-312G>T | |
| NM_000390.4:c.133G>T MANE Select | NP_000381.1:p.Gly45Ter | |
| NM_001145414.4:c.133G>T | NP_001138886.1:p.Gly45Ter | |
| NM_001362518.2:c.-308G>T | NP_001349447.1:n.-308G>T |