Linked Data
ClinVar Variation Id:
2711929
ClinVar RCV Id:
RCV003510788
dbSNP Id:
rs758952279
gnomAD v3:
19-17826806-C-T
gnomAD v4:
19-17826806-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17826806C>T , CM000681.2:g.17826806C>T | GRCh38 |
| NC_000019.9:g.17937615C>T , CM000681.1:g.17937615C>T | GRCh37 |
| NC_000019.8:g.17798615C>T | NCBI36 |
| NG_007273.1:g.26186G>A , LRG_77:g.26186G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1869G>A | ENSP00000513006.1:n.*1869G>A | |
| ENST00000696967.1:n.2489G>A | ||
| ENST00000696968.1:n.545G>A | ||
| ENST00000696969.1:n.2269G>A | ||
| ENST00000458235.7:c.3312G>A MANE Select | ENSP00000391676.1:p.Gly1104= | |
| ENST00000458235.5:c.3312G>A | ENSP00000391676.1:p.Gly1104= | |
| ENST00000527031.5:n.2279-1496G>A | ||
| ENST00000527670.5:c.3312G>A | ENSP00000432511.1:p.Gly1104= | |
| NM_000215.3:c.3312G>A , LRG_77t1:c.3312G>A | NP_000206.2:p.Gly1104= | |
| XM_005259896.2:c.3441G>A | XP_005259953.1:p.Gly1147= | |
| XM_006722745.2:c.3312G>A | XP_006722808.1:p.Gly1104= | |
| XM_005259896.3:c.3441G>A | XP_005259953.1:p.Gly1147= | |
| NM_000215.4:c.3312G>A MANE Select | NP_000206.2:p.Gly1104= |