Linked Data
ClinVar Variation Id:
870762
ClinVar RCV Id:
RCV001090373
dbSNP Id:
rs2083283470
gnomAD v4:
22-50721169-G-T
MyVariant Identifiers:
chr22:g.51159597G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50721169G>T , CM000684.2:g.50721169G>T | GRCh38 |
| NC_000022.10:g.51159597G>T , CM000684.1:g.51159597G>T | GRCh37 |
| NC_000022.9:g.49506463G>T | NCBI36 |
| NG_008607.2:g.51815G>T | |
| NG_070230.1:g.56953G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2937G>T | ENSP00000489147.2:p.Leu979= | |
| ENST00000414786.7:n.3521G>T | ||
| ENST00000445220.7:c.1989G>T | ENSP00000489407.2:p.Leu663= | |
| ENST00000664402.2:c.1479G>T | ENSP00000499475.1:p.Leu493= | |
| ENST00000673971.2:c.*1935G>T | ENSP00000501192.1:n.*1935G>T | |
| ENST00000445220.6:c.1989G>T | ENSP00000489407.2:p.Leu663= | |
| ENST00000262795.6:c.2937G>T | ENSP00000489147.2:p.Leu979= | |
| ENST00000664402.1:c.1479G>T | ENSP00000499475.1:p.Leu493= | |
| ENST00000673971.1:c.*1935G>T | ENSP00000501192.1:n.*1935G>T | |
| ENST00000262795.5:c.3333G>T | ENSP00000489147.1:p.Leu1111= | |
| ENST00000414786.6:n.3521G>T | ||
| ENST00000445220.5:c.3315G>T | ENSP00000489407.1:p.Leu1105= |