Linked Data
ClinVar Variation Id:
540274
ClinVar RCV Id:
RCV000650255
dbSNP Id:
rs1555516039
gnomAD v4:
16-49638558-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.49638558C>T , CM000678.2:g.49638558C>T | GRCh38 |
| NC_000016.9:g.49672469C>T , CM000678.1:g.49672469C>T | GRCh37 |
| NC_000016.8:g.48229970C>T | NCBI36 |
| NG_032972.1:g.224362G>A | |
| NG_032972.2:g.224362G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563137.7:c.618G>A MANE Select | ENSP00000455588.3:p.Glu206= | |
| ENST00000262383.6:c.594G>A | ENSP00000262383.2:p.Glu198= | |
| ENST00000535559.5:c.243G>A | ENSP00000442321.1:p.Glu81= | |
| ENST00000561648.5:c.594G>A | ENSP00000455426.1:p.Glu198= | |
| ENST00000562520.1:c.414G>A | ENSP00000457664.1:p.Glu138= | |
| ENST00000562871.5:c.414G>A | ENSP00000457928.1:p.Glu138= | |
| ENST00000563137.6:c.414G>A | ENSP00000455588.2:p.Glu138= | |
| ENST00000567169.5:c.243G>A | ENSP00000455061.1:p.Glu81= | |
| NM_001271620.1:c.414G>A | NP_001258549.1:p.Glu138= | |
| NM_015069.3:c.594G>A | NP_055884.2:p.Glu198= | |
| XM_005255856.3:c.414G>A | XP_005255913.1:p.Glu138= | |
| XM_005255857.3:c.243G>A | XP_005255914.1:p.Glu81= | |
| XM_006721171.2:c.639G>A | XP_006721234.1:p.Glu213= | |
| XM_011522962.1:c.687G>A | XP_011521264.1:p.Glu229= | |
| NM_001271620.2:c.414G>A | NP_001258549.1:p.Glu138= | |
| NM_001330533.1:c.243G>A | NP_001317462.1:p.Glu81= | |
| NM_015069.4:c.594G>A | NP_055884.2:p.Glu198= | |
| XM_005255856.4:c.414G>A | XP_005255913.1:p.Glu138= | |
| XM_006721171.4:c.639G>A | XP_006721234.1:p.Glu213= | |
| XM_017023076.2:c.618G>A | XP_016878565.1:p.Glu206= | |
| XM_017023077.1:c.414G>A | XP_016878566.1:p.Glu138= | |
| XM_017023078.1:c.414G>A | XP_016878567.1:p.Glu138= | |
| NM_001330533.2:c.243G>A | NP_001317462.1:p.Glu81= | |
| NM_001379286.1:c.618G>A MANE Select | NP_001366215.1:p.Glu206= | |
| NM_015069.5:c.594G>A | NP_055884.2:p.Glu198= |