Linked Data
ClinVar Variation Id:
157746
ClinVar RCV Id:
RCV000145045
dbSNP Id:
rs587783189
gnomAD v2:
X-25025262-G-A
gnomAD v4:
X-25007145-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007145G>A , CM000685.2:g.25007145G>A | GRCh38 |
| NC_000023.10:g.25025262G>A , CM000685.1:g.25025262G>A | GRCh37 |
| NC_000023.9:g.24935183G>A | NCBI36 |
| NG_008281.1:g.13804C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1414C>T MANE Select | ENSP00000368332.4:p.Arg472Ter | |
| ENST00000637993.1:c.27C>T | ||
| ENST00000379044.4:c.1414C>T | ENSP00000368332.4:p.Arg472Ter | |
| NM_139058.2:c.1414C>T | NP_620689.1:p.Arg472Ter | |
| NM_139058.3:c.1414C>T MANE Select | NP_620689.1:p.Arg472Ter |