Linked Data
ClinVar Variation Id:
473010
ClinVar RCV Id:
RCV000543512
dbSNP Id:
rs1410039382
gnomAD v2:
X-25031662-G-T
gnomAD v3:
X-25013545-G-T
gnomAD v4:
X-25013545-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013545G>T , CM000685.2:g.25013545G>T | GRCh38 |
| NC_000023.10:g.25031662G>T , CM000685.1:g.25031662G>T | GRCh37 |
| NC_000023.9:g.24941583G>T | NCBI36 |
| NG_008281.1:g.7404C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.450C>A MANE Select | ENSP00000368332.4:p.Ala150= | |
| ENST00000379044.4:c.450C>A | ENSP00000368332.4:p.Ala150= | |
| NM_139058.2:c.450C>A | NP_620689.1:p.Ala150= | |
| NM_139058.3:c.450C>A MANE Select | NP_620689.1:p.Ala150= |