Linked Data
ClinVar Variation Id:
1573329
ClinVar RCV Id:
RCV002207926
dbSNP Id:
rs146718567
ExAC:
X:37545271 G / C
gnomAD v2:
X-37545271-G-C
gnomAD v3:
X-37686018-G-C
gnomAD v4:
X-37686018-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37686018G>C , CM000685.2:g.37686018G>C | GRCh38 |
| NC_000023.10:g.37545271G>C , CM000685.1:g.37545271G>C | GRCh37 |
| NC_000023.9:g.37430190G>C | NCBI36 |
| NG_007473.1:g.5139G>C | |
| NG_007473.3:g.5139G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378616.5:c.57G>C MANE Select | ENSP00000367879.3:p.Thr19= | |
| ENST00000378616.3:c.57G>C | ENSP00000367879.3:p.Thr19= | |
| ENST00000465127.1:c.171+260018G>C | ENSP00000417050.1:n.171+260018G>C | |
| NM_021083.2:c.57G>C | NP_066569.1:p.Thr19= | |
| XM_011543978.1:c.57G>C | XP_011542280.1:p.Thr19= | |
| NM_021083.4:c.57G>C MANE Select | NP_066569.1:p.Thr19= | |
| XM_011543978.3:c.57G>C | XP_011542280.1:p.Thr19= |