Linked Data
ClinVar Variation Id:
633145
ClinVar RCV Id:
RCV000781200
dbSNP Id:
rs1569377829
gnomAD v4:
X-136659261-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659261C>A , CM000685.2:g.136659261C>A | GRCh38 |
| NC_000023.10:g.135741420C>A , CM000685.1:g.135741420C>A | GRCh37 |
| NC_000023.9:g.135569086C>A | NCBI36 |
| NG_007280.1:g.16085C>A , LRG_141:g.16085C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*250C>A | ENSP00000512122.1:n.*250C>A | |
| ENST00000695725.1:c.*187C>A | ENSP00000512123.1:n.*187C>A | |
| ENST00000695726.1:n.2600C>A | ||
| ENST00000695729.1:n.3435C>A | ||
| ENST00000370629.7:c.632C>A MANE Select | ENSP00000359663.2:p.Thr211Asn | |
| ENST00000370628.2:c.569C>A | ENSP00000359662.2:p.Thr190Asn | |
| ENST00000370629.6:c.632C>A | ENSP00000359663.2:p.Thr211Asn | |
| NM_000074.2:c.632C>A , LRG_141t1:c.632C>A | NP_000065.1:p.Thr211Asn | |
| NM_000074.3:c.632C>A MANE Select | NP_000065.1:p.Thr211Asn |