Linked Data
ClinVar Variation Id:
204171
ClinVar RCV Id:
RCV000186378
dbSNP Id:
rs180177298
gnomAD v4:
2-240878021-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878021G>A , CM000664.2:g.240878021G>A | GRCh38 |
| NC_000002.11:g.241817438G>A , CM000664.1:g.241817438G>A | GRCh37 |
| NC_000002.10:g.241466111G>A | NCBI36 |
| NG_008005.1:g.14277G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.943-1G>A MANE Select | ENSP00000302620.3:n.943-1G>A | |
| ENST00000307503.3:c.943-1G>A | ENSP00000302620.3:n.943-1G>A | |
| ENST00000470255.1:n.721-1G>A | ||
| NM_000030.2:c.943-1G>A | NP_000021.1:n.943-1G>A | |
| NM_000030.3:c.943-1G>A MANE Select | NP_000021.1:n.943-1G>A |