Linked Data
ClinVar Variation Id:
2932387
ClinVar RCV Id:
RCV003795601
dbSNP Id:
rs906109706
gnomAD v2:
X-30327106-G-A
gnomAD v4:
X-30308989-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308989G>A , CM000685.2:g.30308989G>A | GRCh38 |
| NC_000023.10:g.30327106G>A , CM000685.1:g.30327106G>A | GRCh37 |
| NC_000023.9:g.30237027G>A | NCBI36 |
| NG_009814.1:g.5390C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.375C>T MANE Select | ENSP00000368253.4:p.Pro125= | |
| ENST00000378970.4:c.375C>T | ENSP00000368253.4:p.Pro125= | |
| NM_000475.4:c.375C>T | NP_000466.2:p.Pro125= | |
| NM_000475.5:c.375C>T MANE Select | NP_000466.2:p.Pro125= |