Linked Data
ClinVar Variation Id:
1937461
ClinVar RCV Id:
RCV002642817
dbSNP Id:
rs777210088
ExAC:
X:38268274 T / G
gnomAD v2:
X-38268274-T-G
gnomAD v3:
X-38409021-T-G
gnomAD v4:
X-38409021-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38409021T>G , CM000685.2:g.38409021T>G | GRCh38 |
| NC_000023.10:g.38268274T>G , CM000685.1:g.38268274T>G | GRCh37 |
| NC_000023.9:g.38153218T>G | NCBI36 |
| NG_008471.1:g.61539T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.863T>G MANE Select | ENSP00000039007.4:p.Met288Arg | |
| ENST00000643344.1:c.*613T>G | ENSP00000496606.1:n.*613T>G | |
| ENST00000039007.4:c.863T>G | ENSP00000039007.4:p.Met288Arg | |
| ENST00000465127.1:c.172-257100T>G | ENSP00000417050.1:n.172-257100T>G | |
| NM_000531.5:c.863T>G | NP_000522.3:p.Met288Arg | |
| XM_017029556.1:c.863T>G | XP_016885045.1:p.Met288Arg | |
| NM_000531.6:c.863T>G MANE Select | NP_000522.3:p.Met288Arg |