Linked Data
ClinVar Variation Id:
289618
ClinVar RCV Id:
RCV000387736
dbSNP Id:
rs780972997
ExAC:
19:18898325 C / T
gnomAD v2:
19-18898325-C-T
gnomAD v3:
19-18787516-C-T
gnomAD v4:
19-18787516-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787516C>T , CM000681.2:g.18787516C>T | GRCh38 |
| NC_000019.9:g.18898325C>T , CM000681.1:g.18898325C>T | GRCh37 |
| NC_000019.8:g.18759325C>T | NCBI36 |
| NG_007070.1:g.8790G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1110G>A MANE Select | ENSP00000222271.2:p.Ala370= | |
| ENST00000222271.6:c.1110G>A | ENSP00000222271.2:p.Ala370= | |
| ENST00000425807.1:c.951G>A | ENSP00000403792.1:p.Ala317= | |
| ENST00000542601.6:c.1011G>A | ENSP00000439156.2:p.Ala337= | |
| NM_000095.2:c.1110G>A | NP_000086.2:p.Ala370= | |
| NM_000095.3:c.1110G>A MANE Select | NP_000086.2:p.Ala370= |