Linked Data
ClinVar Variation Id:
1117491
ClinVar RCV Id:
RCV001446272
dbSNP Id:
rs2147538281
MyVariant Identifiers:
chrX:g.99661955A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100406957A>G , CM000685.2:g.100406957A>G | GRCh38 |
| NC_000023.10:g.99661955A>G , CM000685.1:g.99661955A>G | GRCh37 |
| NC_000023.9:g.99548611A>G | NCBI36 |
| NG_021319.1:g.8317T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255531.8:c.1641T>C | ENSP00000255531.7:p.Ala547= | |
| ENST00000373034.8:c.1641T>C MANE Select | ENSP00000362125.4:p.Ala547= | |
| ENST00000420881.6:c.1641T>C | ENSP00000400327.2:p.Ala547= | |
| NM_001105243.1:c.1641T>C | NP_001098713.1:p.Ala547= | |
| NM_001184880.1:c.1641T>C | NP_001171809.1:p.Ala547= | |
| NM_020766.2:c.1641T>C | NP_065817.2:p.Ala547= | |
| XM_011530997.1:c.1641T>C | XP_011529299.1:p.Ala547= | |
| XM_011530997.2:c.1641T>C | XP_011529299.1:p.Ala547= | |
| NM_001105243.2:c.1641T>C | NP_001098713.1:p.Ala547= | |
| NM_001184880.2:c.1641T>C MANE Select | NP_001171809.1:p.Ala547= | |
| NM_020766.3:c.1641T>C | NP_065817.2:p.Ala547= |