Linked Data
ClinVar Variation Id:
2881711
ClinVar RCV Id:
RCV003708243
dbSNP Id:
rs571146259
ExAC:
19:18898404 C / G
gnomAD v2:
19-18898404-C-G
gnomAD v3:
19-18787595-C-G
gnomAD v4:
19-18787595-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787595C>G , CM000681.2:g.18787595C>G | GRCh38 |
| NC_000019.9:g.18898404C>G , CM000681.1:g.18898404C>G | GRCh37 |
| NC_000019.8:g.18759404C>G | NCBI36 |
| NG_007070.1:g.8711G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1031G>C MANE Select | ENSP00000222271.2:p.Trp344Ser | |
| ENST00000222271.6:c.1031G>C | ENSP00000222271.2:p.Trp344Ser | |
| ENST00000425807.1:c.872G>C | ENSP00000403792.1:p.Trp291Ser | |
| ENST00000542601.6:c.932G>C | ENSP00000439156.2:p.Trp311Ser | |
| NM_000095.2:c.1031G>C | NP_000086.2:p.Trp344Ser | |
| NM_000095.3:c.1031G>C MANE Select | NP_000086.2:p.Trp344Ser |