Linked Data
ClinVar Variation Id:
1905330
ClinVar RCV Id:
RCV002580786
dbSNP Id:
rs780863395
ExAC:
X:25031479 C / T
gnomAD v2:
X-25031479-C-T
gnomAD v3:
X-25013362-C-T
gnomAD v4:
X-25013362-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013362C>T , CM000685.2:g.25013362C>T | GRCh38 |
| NC_000023.10:g.25031479C>T , CM000685.1:g.25031479C>T | GRCh37 |
| NC_000023.9:g.24941400C>T | NCBI36 |
| NG_008281.1:g.7587G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.633G>A MANE Select | ENSP00000368332.4:p.Pro211= | |
| ENST00000379044.4:c.633G>A | ENSP00000368332.4:p.Pro211= | |
| NM_139058.2:c.633G>A | NP_620689.1:p.Pro211= | |
| NM_139058.3:c.633G>A MANE Select | NP_620689.1:p.Pro211= |