Linked Data
ClinVar Variation Id:
5780
ClinVar RCV Id:
RCV000006136
dbSNP Id:
rs121908479
gnomAD v2:
19-33353463-C-T
gnomAD v4:
19-32862557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32862557C>T , CM000681.2:g.32862557C>T | GRCh38 |
| NC_000019.9:g.33353463C>T , CM000681.1:g.33353463C>T | GRCh37 |
| NC_000019.8:g.38045303C>T | NCBI36 |
| NG_008258.1:g.12221G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000023064.9:c.508G>A MANE Select | ENSP00000023064.3:p.Val170Met | |
| ENST00000023064.8:c.508G>A | ENSP00000023064.3:p.Val170Met | |
| ENST00000587772.1:c.508G>A | ENSP00000468439.1:p.Val170Met | |
| ENST00000589659.1:n.453G>A | ||
| ENST00000590341.5:c.508G>A | ENSP00000464822.1:p.Val170Met | |
| ENST00000590465.5:c.*210+1539G>A | ENSP00000468076.1:n.*210+1539G>A | |
| ENST00000592232.5:c.*210+1539G>A | ENSP00000465563.1:n.*210+1539G>A | |
| NM_001126335.1:c.508G>A | NP_001119807.1:p.Val170Met | |
| NM_001243036.1:c.508G>A | NP_001229965.1:p.Val170Met | |
| NM_014270.4:c.508G>A | NP_055085.1:p.Val170Met | |
| XM_006722992.1:c.23+1539G>A | XP_006723055.1:n.23+1539G>A | |
| XM_011526402.1:c.508G>A | XP_011524704.1:p.Val170Met | |
| XM_011526402.3:c.508G>A | XP_011524704.1:p.Val170Met | |
| XM_017026230.1:c.244G>A | XP_016881719.1:p.Val82Met | |
| XM_024451334.1:c.-565+1539G>A | XP_024307102.1:n.-565+1539G>A | |
| NM_014270.5:c.508G>A MANE Select | NP_055085.1:p.Val170Met | |
| NM_001126335.2:c.508G>A | NP_001119807.1:p.Val170Met | |
| NM_001243036.2:c.508G>A | NP_001229965.1:p.Val170Met |