Linked Data
ClinVar Variation Id:
2941484
ClinVar RCV Id:
RCV003795186
dbSNP Id:
rs1174418283
gnomAD v3:
X-25013553-C-G
gnomAD v4:
X-25013553-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013553C>G , CM000685.2:g.25013553C>G | GRCh38 |
| NC_000023.10:g.25031670C>G , CM000685.1:g.25031670C>G | GRCh37 |
| NC_000023.9:g.24941591C>G | NCBI36 |
| NG_008281.1:g.7396G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.442G>C MANE Select | ENSP00000368332.4:p.Ala148Pro | |
| ENST00000379044.4:c.442G>C | ENSP00000368332.4:p.Ala148Pro | |
| NM_139058.2:c.442G>C | NP_620689.1:p.Ala148Pro | |
| NM_139058.3:c.442G>C MANE Select | NP_620689.1:p.Ala148Pro |