Linked Data
ClinVar Variation Id:
1150460
ClinVar RCV Id:
RCV001491092
dbSNP Id:
rs2147345085
gnomAD v4:
X-38408890-G-C
MyVariant Identifiers:
chrX:g.38268143G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408890G>C , CM000685.2:g.38408890G>C | GRCh38 |
| NC_000023.10:g.38268143G>C , CM000685.1:g.38268143G>C | GRCh37 |
| NC_000023.9:g.38153087G>C | NCBI36 |
| NG_008471.1:g.61408G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.732G>C MANE Select | ENSP00000039007.4:p.Leu244= | |
| ENST00000643344.1:c.*482G>C | ENSP00000496606.1:n.*482G>C | |
| ENST00000039007.4:c.732G>C | ENSP00000039007.4:p.Leu244= | |
| ENST00000465127.1:c.172-257231G>C | ENSP00000417050.1:n.172-257231G>C | |
| NM_000531.5:c.732G>C | NP_000522.3:p.Leu244= | |
| XM_017029556.1:c.732G>C | XP_016885045.1:p.Leu244= | |
| NM_000531.6:c.732G>C MANE Select | NP_000522.3:p.Leu244= |