Linked Data
ClinVar Variation Id:
1541
dbSNP Id:
rs118204070
gnomAD v2:
8-19809302-G-A
gnomAD v3:
8-19951791-G-A
gnomAD v4:
8-19951791-G-A
PubMed:
PMID:1512512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951791G>A , CM000670.2:g.19951791G>A | GRCh38 |
| NC_000008.10:g.19809302G>A , CM000670.1:g.19809302G>A | GRCh37 |
| NC_000008.9:g.19853582G>A | NCBI36 |
| NG_008855.1:g.17721G>A | |
| NG_008855.2:g.55075G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.272G>A MANE Select | ENSP00000497642.1:p.Trp91Ter | |
| ENST00000311322.8:c.272G>A | ENSP00000309757.6:p.Trp91Ter | |
| ENST00000520959.5:c.44G>A | ENSP00000428496.1:p.Trp15Ter | |
| ENST00000521994.1:n.529G>A | ||
| ENST00000522701.5:c.272G>A | ENSP00000428557.1:p.Trp91Ter | |
| ENST00000524029.5:c.272G>A | ENSP00000428237.1:p.Trp91Ter | |
| NM_000237.2:c.272G>A | NP_000228.1:p.Trp91Ter | |
| NM_000237.3:c.272G>A MANE Select | NP_000228.1:p.Trp91Ter |