Linked Data
ClinVar Variation Id:
881268
dbSNP Id:
rs1185319004
gnomAD v2:
12-102179980-C-T
gnomAD v4:
12-101786202-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786202C>T , CM000674.2:g.101786202C>T | GRCh38 |
| NC_000012.11:g.102179980C>T , CM000674.1:g.102179980C>T | GRCh37 |
| NC_000012.10:g.100704111C>T | NCBI36 |
| NG_021243.1:g.49666G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.381G>A MANE Select | ENSP00000299314.7:p.Glu127= | |
| ENST00000299314.11:c.381G>A | ENSP00000299314.7:p.Glu127= | |
| ENST00000549940.5:c.381G>A | ENSP00000449150.1:p.Glu127= | |
| ENST00000550352.1:n.175G>A | ||
| ENST00000552681.1:c.15G>A | ENSP00000449217.1:p.Glu5= | |
| NM_024312.4:c.381G>A | NP_077288.2:p.Glu127= | |
| XM_006719593.2:c.381G>A | XP_006719656.1:p.Glu127= | |
| XM_011538731.1:c.300G>A | XP_011537033.1:p.Glu100= | |
| XM_006719593.3:c.381G>A | XP_006719656.1:p.Glu127= | |
| XM_011538731.2:c.300G>A | XP_011537033.1:p.Glu100= | |
| XM_017019961.1:c.165G>A | XP_016875450.1:p.Glu55= | |
| XM_017019962.2:c.-970G>A | XP_016875451.1:n.-970G>A | |
| NM_024312.5:c.381G>A MANE Select | NP_077288.2:p.Glu127= |