Linked Data
ClinVar Variation Id:
590233
ClinVar RCV Id:
RCV000721047
dbSNP Id:
rs1417254985
gnomAD v4:
X-25007298-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007298G>T , CM000685.2:g.25007298G>T | GRCh38 |
| NC_000023.10:g.25025415G>T , CM000685.1:g.25025415G>T | GRCh37 |
| NC_000023.9:g.24935336G>T | NCBI36 |
| NG_008281.1:g.13651C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1261C>A MANE Select | ENSP00000368332.4:p.Pro421Thr | |
| ENST00000379044.4:c.1261C>A | ENSP00000368332.4:p.Pro421Thr | |
| NM_139058.2:c.1261C>A | NP_620689.1:p.Pro421Thr | |
| NM_139058.3:c.1261C>A MANE Select | NP_620689.1:p.Pro421Thr |