Linked Data
ClinVar Variation Id:
205584
dbSNP Id:
rs370421531
ExAC:
19:1398963 C / T
gnomAD v2:
19-1398963-C-T
gnomAD v3:
19-1398964-C-T
gnomAD v4:
19-1398964-C-T
ERepo:
CA314812/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1398964C>T , CM000681.2:g.1398964C>T | GRCh38 |
| NC_000019.9:g.1398963C>T , CM000681.1:g.1398963C>T | GRCh37 |
| NC_000019.8:g.1349963C>T | NCBI36 |
| NG_009785.1:g.7590G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.522G>A MANE Select | ENSP00000252288.1:p.Trp174Ter | |
| ENST00000447102.8:c.522G>A | ENSP00000403536.2:p.Trp174Ter | |
| ENST00000591788.3:c.205G>A | ||
| ENST00000640164.1:n.355G>A | ||
| ENST00000640762.1:c.453G>A | ENSP00000492031.1:p.Trp151Ter | |
| ENST00000252288.6:c.522G>A | ENSP00000252288.1:p.Trp174Ter | |
| ENST00000447102.7:c.522G>A | ENSP00000403536.2:p.Trp174Ter | |
| ENST00000591788.2:c.207G>A | ENSP00000466341.2:p.Trp69Ter | |
| NM_000156.5:c.522G>A | NP_000147.1:p.Trp174Ter | |
| NM_138924.2:c.522G>A | NP_620279.1:p.Trp174Ter | |
| NM_000156.6:c.522G>A MANE Select | NP_000147.1:p.Trp174Ter | |
| NM_138924.3:c.522G>A | NP_620279.1:p.Trp174Ter |