Linked Data
ClinVar Variation Id:
983955
ClinVar RCV Id:
RCV001263960
dbSNP Id:
rs368224056
ExAC:
19:12758354 C / T
gnomAD v2:
19-12758354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647540C>T , CM000681.2:g.12647540C>T | GRCh38 |
| NC_000019.9:g.12758354C>T , CM000681.1:g.12758354C>T | GRCh37 |
| NC_000019.8:g.12619354C>T | NCBI36 |
| NG_008318.1:g.24238G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2723G>A MANE Select | ENSP00000395473.2:p.Trp908Ter | |
| ENST00000221363.8:c.2720G>A | ENSP00000221363.4:p.Trp907Ter | |
| ENST00000456935.6:c.2723G>A | ENSP00000395473.2:p.Trp908Ter | |
| ENST00000466794.5:n.3313G>A | ||
| ENST00000469423.1:n.45G>A | ||
| ENST00000493218.5:n.134G>A | ||
| ENST00000597692.1:c.282G>A | ||
| NM_000528.3:c.2723G>A | NP_000519.2:p.Trp908Ter | |
| NM_001173498.1:c.2720G>A | NP_001166969.1:p.Trp907Ter | |
| XM_005259913.1:c.2726G>A | XP_005259970.1:p.Trp909Ter | |
| XM_011528017.1:c.1622G>A | XP_011526319.1:p.Trp541Ter | |
| XM_005259913.2:c.2726G>A | XP_005259970.1:p.Trp909Ter | |
| XM_024451518.1:c.1622G>A | XP_024307286.1:p.Trp541Ter | |
| NM_000528.4:c.2723G>A MANE Select | NP_000519.2:p.Trp908Ter | |
| NM_001173498.2:c.2720G>A | NP_001166969.1:p.Trp907Ter |