Linked Data
dbSNP Id:
rs2428707
gnomAD v3:
X-114765807-T-C
gnomAD v4:
X-114765807-T-C
MyVariant Identifiers:
chrX:g.114765807T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.114765807T>C , CM000685.2:g.114765807T>C | GRCh38 |
| NG_012082.2:g.186723T>C | |
| NG_012082.3:g.186723T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276198.6:c.349+34200T>C MANE Select | ENSP00000276198.1:n.349+34200T>C | |
| ENST00000276198.5:c.349+34200T>C | ENSP00000276198.1:n.349+34200T>C | |
| ENST00000371950.3:c.349+34200T>C | ENSP00000361018.3:n.349+34200T>C | |
| ENST00000371951.5:c.349+34200T>C | ENSP00000361019.1:n.349+34200T>C | |
| NM_000868.3:c.349+34200T>C | NP_000859.1:n.349+34200T>C | |
| NM_001256760.2:c.349+34200T>C | NP_001243689.1:n.349+34200T>C | |
| NM_001256761.2:c.349+34200T>C | NP_001243690.1:n.349+34200T>C | |
| XR_944300.1:n.208+23536A>G | ||
| XR_944301.1:n.208+23536A>G | ||
| XR_001755943.1:n.208+23536A>G | ||
| NM_000868.4:c.349+34200T>C MANE Select | NP_000859.2:n.349+34200T>C | |
| NM_001256760.3:c.349+34200T>C | NP_001243689.2:n.349+34200T>C | |
| NM_001256761.3:c.349+34200T>C | NP_001243690.2:n.349+34200T>C |