Linked Data
ClinVar Variation Id:
488511
ClinVar RCV Id:
RCV000578443
dbSNP Id:
rs782657516
ExAC:
X:154185236 T / C
gnomAD v2:
X-154185236-T-C
gnomAD v3:
X-154956961-T-C
gnomAD v4:
X-154956961-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154956961T>C , CM000685.2:g.154956961T>C | GRCh38 |
| NC_000023.10:g.154185236T>C , CM000685.1:g.154185236T>C | GRCh37 |
| NC_000023.9:g.153838430T>C | NCBI36 |
| NG_011403.1:g.70763A>G | |
| NG_011403.2:g.70763A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1748A>G MANE Select | ENSP00000353393.4:p.Asn583Ser | |
| ENST00000647125.1:c.*1624A>G | ENSP00000496062.1:n.*1624A>G | |
| ENST00000360256.8:c.1748A>G | ENSP00000353393.4:p.Asn583Ser | |
| NM_000132.3:c.1748A>G | NP_000123.1:p.Asn583Ser | |
| XM_011531126.1:c.1643A>G | XP_011529428.1:p.Asn548Ser | |
| NM_000132.4:c.1748A>G MANE Select | NP_000123.1:p.Asn583Ser |