Linked Data
ClinVar Variation Id:
2595356
ClinVar RCV Id:
RCV004342258
dbSNP Id:
rs781405718
gnomAD v2:
19-14591555-G-T
gnomAD v3:
19-14480743-G-T
gnomAD v4:
19-14480743-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.14480743G>T , CM000681.2:g.14480743G>T | GRCh38 |
| NC_000019.9:g.14591555G>T , CM000681.1:g.14591555G>T | GRCh37 |
| NC_000019.8:g.14452555G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393033.9:c.324C>A MANE Select | ENSP00000376753.3:p.Asp108Glu | |
| ENST00000345425.6:c.324C>A | ENSP00000340698.1:p.Asp108Glu | |
| ENST00000393028.5:c.33C>A | ENSP00000376748.1:p.Asp11Glu | |
| ENST00000393033.8:c.324C>A | ENSP00000376753.3:p.Asp108Glu | |
| ENST00000586027.5:c.324C>A | ENSP00000466747.1:p.Asp108Glu | |
| ENST00000587210.1:c.33C>A | ENSP00000468787.1:p.Asp11Glu | |
| ENST00000587969.1:c.33C>A | ENSP00000464879.1:p.Asp11Glu | |
| ENST00000589497.5:c.33C>A | ENSP00000465003.1:p.Asp11Glu | |
| ENST00000591349.5:c.33C>A | ENSP00000467077.1:p.Asp11Glu | |
| NM_005716.3:c.324C>A | NP_005707.1:p.Asp108Glu | |
| NM_202468.2:c.324C>A | NP_974197.1:p.Asp108Glu | |
| NM_202469.2:c.33C>A | NP_974198.1:p.Asp11Glu | |
| NM_202470.2:c.324C>A | NP_974199.1:p.Asp108Glu | |
| NM_202494.2:c.33C>A | NP_974223.1:p.Asp11Glu | |
| XM_011527643.1:c.33C>A | XP_011525945.1:p.Asp11Glu | |
| XM_017026147.1:c.324C>A | XP_016881636.1:p.Asp108Glu | |
| XM_017026148.2:c.33C>A | XP_016881637.1:p.Asp11Glu | |
| NM_005716.4:c.324C>A MANE Select | NP_005707.1:p.Asp108Glu | |
| NM_202468.3:c.324C>A | NP_974197.1:p.Asp108Glu | |
| NM_202469.3:c.33C>A | NP_974198.1:p.Asp11Glu | |
| NM_202470.3:c.324C>A | NP_974199.1:p.Asp108Glu | |
| NM_202494.3:c.33C>A | NP_974223.1:p.Asp11Glu |