Linked Data
ClinVar Variation Id:
639480
ClinVar RCV Id:
RCV002234193
dbSNP Id:
rs1585254187
gnomAD v4:
7-92517352-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517352C>T , CM000669.2:g.92517352C>T | GRCh38 |
| NC_000007.13:g.92146666C>T , CM000669.1:g.92146666C>T | GRCh37 |
| NC_000007.12:g.91984602C>T | NCBI36 |
| NG_008341.1:g.16180G>A | |
| NG_008341.2:g.16180G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1163G>A MANE Select | ENSP00000248633.4:p.Trp388Ter | |
| ENST00000248633.8:c.1163G>A | ENSP00000248633.4:p.Trp388Ter | |
| ENST00000422866.1:c.64G>A | ||
| ENST00000428214.5:c.1163G>A | ENSP00000394413.1:p.Trp388Ter | |
| ENST00000438045.5:c.274-3385G>A | ENSP00000410438.1:n.274-3385G>A | |
| ENST00000484913.5:n.1202G>A | ||
| NM_000466.2:c.1163G>A | NP_000457.1:p.Trp388Ter | |
| NM_001282677.1:c.1163G>A | NP_001269606.1:p.Trp388Ter | |
| NM_001282678.1:c.539G>A | NP_001269607.1:p.Trp180Ter | |
| XR_242246.3:n.1259G>A | ||
| XM_017012319.2:c.-504G>A | XP_016867808.1:n.-504G>A | |
| XR_001744808.2:n.273G>A | ||
| XR_242246.5:n.1210G>A | ||
| NM_000466.3:c.1163G>A MANE Select | NP_000457.1:p.Trp388Ter | |
| NM_001282677.2:c.1163G>A | NP_001269606.1:p.Trp388Ter | |
| NM_001282678.2:c.539G>A | NP_001269607.1:p.Trp180Ter |