Linked Data
ClinVar Variation Id:
2942508
ClinVar RCV Id:
RCV003805722
gnomAD v4:
X-48691147-T-C
MyVariant Identifiers:
chrX:g.48549538T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48691147T>C , CM000685.2:g.48691147T>C | GRCh38 |
| NC_000023.10:g.48549538T>C , CM000685.1:g.48549538T>C | GRCh37 |
| NC_000023.9:g.48434482T>C | NCBI36 |
| NG_007877.1:g.12353T>C , LRG_125:g.12353T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698625.1:c.1494T>C | ENSP00000513844.1:p.Asp498= | |
| ENST00000698626.1:c.*13T>C | ENSP00000513845.1:n.*13T>C | |
| ENST00000698635.1:c.*678T>C | ENSP00000513850.1:n.*678T>C | |
| ENST00000376701.5:c.1494T>C MANE Select | ENSP00000365891.4:p.Asp498= | |
| ENST00000376701.4:c.1494T>C | ENSP00000365891.4:p.Asp498= | |
| NM_000377.2:c.1494T>C , LRG_125t1:c.1494T>C | NP_000368.1:p.Asp498= | |
| XM_011543977.1:c.1338T>C | XP_011542279.1:p.Asp446= | |
| XM_011543977.2:c.1338T>C | XP_011542279.1:p.Asp446= | |
| NM_000377.3:c.1494T>C MANE Select | NP_000368.1:p.Asp498= |