Linked Data
ClinVar Variation Id:
2415397
ClinVar RCV Id:
RCV003110816
dbSNP Id:
rs781019812
ExAC:
X:63412361 T / C
gnomAD v2:
X-63412361-T-C
gnomAD v4:
X-64192481-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64192481T>C , CM000685.2:g.64192481T>C | GRCh38 |
| NC_000023.10:g.63412361T>C , CM000685.1:g.63412361T>C | GRCh37 |
| NC_000023.9:g.63329086T>C | NCBI36 |
| NG_021345.1:g.18264A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374869.8:c.806A>G MANE Select | ENSP00000364003.4:p.His269Arg | |
| ENST00000330258.3:c.806A>G | ENSP00000329117.3:p.His269Arg | |
| ENST00000374869.7:c.806A>G | ENSP00000364003.3:p.His269Arg | |
| NM_152424.3:c.806A>G | NP_689637.3:p.His269Arg | |
| XM_011530858.1:c.806A>G | XP_011529160.1:p.His269Arg | |
| NM_152424.4:c.806A>G MANE Select | NP_689637.3:p.His269Arg |