Linked Data
ClinVar Variation Id:
335300
ClinVar RCV Id:
RCV000670177
dbSNP Id:
rs886055843
gnomAD v2:
2-241817063-T-G
gnomAD v3:
2-240877646-T-G
gnomAD v4:
2-240877646-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877646T>G , CM000664.2:g.240877646T>G | GRCh38 |
| NC_000002.11:g.241817063T>G , CM000664.1:g.241817063T>G | GRCh37 |
| NC_000002.10:g.241465736T>G | NCBI36 |
| NG_008005.1:g.13902T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.942+14T>G MANE Select | ENSP00000302620.3:n.942+14T>G | |
| ENST00000307503.3:c.942+14T>G | ENSP00000302620.3:n.942+14T>G | |
| ENST00000470255.1:n.720+14T>G | ||
| NM_000030.2:c.942+14T>G | NP_000021.1:n.942+14T>G | |
| NM_000030.3:c.942+14T>G MANE Select | NP_000021.1:n.942+14T>G |