Linked Data
ClinVar Variation Id:
368553
ClinVar RCV Id:
RCV000261703
dbSNP Id:
rs1057515955
gnomAD v3:
X-53375522-A-G
gnomAD v4:
X-53375522-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53375522A>G , CM000685.2:g.53375522A>G | GRCh38 |
| NC_000023.10:g.53402443A>G , CM000685.1:g.53402443A>G | GRCh37 |
| NC_000023.9:g.53419168A>G | NCBI36 |
| NG_006988.2:g.52149T>C , LRG_773:g.52149T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.*4581T>C MANE Select | ENSP00000323421.3:n.*4581T>C | |
| ENST00000675504.1:c.*4581T>C | ENSP00000502524.1:n.*4581T>C | |
| ENST00000322213.8:c.*4581T>C | ENSP00000323421.3:n.*4581T>C | |
| ENST00000375340.10:c.*4581T>C | ENSP00000364489.7:n.*4581T>C | |
| NM_001281463.1:c.*4581T>C , LRG_773t1:c.*4581T>C | NP_001268392.1:n.*4581T>C | |
| NM_006306.3:c.*4581T>C , LRG_773t2:c.*4581T>C | NP_006297.2:n.*4581T>C | |
| NM_006306.4:c.*4581T>C MANE Select | NP_006297.2:n.*4581T>C |