Linked Data
ClinVar Variation Id:
2134871
ClinVar RCV Id:
RCV003066008
dbSNP Id:
rs1340741097
gnomAD v2:
X-25031383-C-T
gnomAD v4:
X-25013266-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013266C>T , CM000685.2:g.25013266C>T | GRCh38 |
| NC_000023.10:g.25031383C>T , CM000685.1:g.25031383C>T | GRCh37 |
| NC_000023.9:g.24941304C>T | NCBI36 |
| NG_008281.1:g.7683G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.729G>A MANE Select | ENSP00000368332.4:p.Leu243= | |
| ENST00000379044.4:c.729G>A | ENSP00000368332.4:p.Leu243= | |
| NM_139058.2:c.729G>A | NP_620689.1:p.Leu243= | |
| NM_139058.3:c.729G>A MANE Select | NP_620689.1:p.Leu243= |