Linked Data
ClinVar Variation Id:
2941789
ClinVar RCV Id:
RCV003802811
dbSNP Id:
rs1420290442
gnomAD v3:
X-30304831-G-T
gnomAD v4:
X-30304831-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304831G>T , CM000685.2:g.30304831G>T | GRCh38 |
| NC_000023.10:g.30322948G>T , CM000685.1:g.30322948G>T | GRCh37 |
| NC_000023.9:g.30232869G>T | NCBI36 |
| NG_009814.1:g.9548C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1169-8C>A MANE Select | ENSP00000368253.4:n.1169-8C>A | |
| ENST00000378970.4:c.1169-8C>A | ENSP00000368253.4:n.1169-8C>A | |
| NM_000475.4:c.1169-8C>A | NP_000466.2:n.1169-8C>A | |
| NM_000475.5:c.1169-8C>A MANE Select | NP_000466.2:n.1169-8C>A |