Linked Data
ClinVar Variation Id:
1261800
ClinVar RCV Id:
RCV001674378
dbSNP Id:
rs10503871
gnomAD v2:
8-30436852-C-T
gnomAD v3:
8-30579335-C-T
gnomAD v4:
8-30579335-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.30579335C>T , CM000670.2:g.30579335C>T | GRCh38 |
| NC_000008.10:g.30436852C>T , CM000670.1:g.30436852C>T | GRCh37 |
| NC_000008.9:g.30556394C>T | NCBI36 |
| NG_052833.1:g.83907G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355904.9:c.760-298G>A MANE Select | ENSP00000348168.4:n.760-298G>A | |
| ENST00000355904.8:c.760-298G>A | ENSP00000348168.4:n.760-298G>A | |
| NM_002095.4:c.760-298G>A | NP_002086.1:n.760-298G>A | |
| NM_002095.5:c.760-298G>A | NP_002086.1:n.760-298G>A | |
| XM_017013363.1:c.760-298G>A | XP_016868852.1:n.760-298G>A | |
| XM_017013364.1:c.760-298G>A | XP_016868853.1:n.760-298G>A | |
| XM_024447138.1:c.760-298G>A | XP_024302906.1:n.760-298G>A | |
| NM_002095.6:c.760-298G>A MANE Select | NP_002086.1:n.760-298G>A |