Linked Data
ClinVar Variation Id:
521495
ClinVar RCV Id:
RCV000622575
dbSNP Id:
rs757553320
ExAC:
X:132437199 T / C
gnomAD v2:
X-132437199-T-C
gnomAD v3:
X-133303171-T-C
gnomAD v4:
X-133303171-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133303171T>C , CM000685.2:g.133303171T>C | GRCh38 |
| NC_000023.10:g.132437199T>C , CM000685.1:g.132437199T>C | GRCh37 |
| NC_000023.9:g.132264865T>C | NCBI36 |
| NG_012498.1:g.117007A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370828.4:c.1463A>G MANE Select | ENSP00000359864.3:p.Asp488Gly | |
| ENST00000370828.3:c.1463A>G | ENSP00000359864.3:p.Asp488Gly | |
| NM_001448.2:c.1463A>G | NP_001439.2:p.Asp488Gly | |
| NM_001448.3:c.1463A>G MANE Select | NP_001439.2:p.Asp488Gly |