Linked Data
ClinVar Variation Id:
208816
ClinVar RCV Id:
RCV000190844
RCV000190845
RCV000224674
RCV000504631
RCV000507277
RCV001003049
RCV001082167
RCV003407694
dbSNP Id:
rs112029032
ExAC:
8:43054647 G / A
gnomAD v2:
8-43054647-G-A
gnomAD v3:
8-43199504-G-A
gnomAD v4:
8-43199504-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43199504G>A , CM000670.2:g.43199504G>A | GRCh38 |
| NC_000008.10:g.43054647G>A , CM000670.1:g.43054647G>A | GRCh37 |
| NC_000008.9:g.43173804G>A | NCBI36 |
| NG_009552.1:g.64056G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1843G>A MANE Select | ENSP00000368965.4:p.Ala615Thr | |
| ENST00000379644.8:c.1843G>A | ENSP00000368965.4:p.Ala615Thr | |
| ENST00000519705.1:n.1159G>A | ||
| ENST00000521576.1:c.994G>A | ENSP00000429029.1:p.Ala332Thr | |
| NM_152419.2:c.1843G>A | NP_689632.2:p.Ala615Thr | |
| XM_005273409.1:c.1954G>A | XP_005273466.1:p.Ala652Thr | |
| XM_005273410.1:c.1930G>A | XP_005273467.1:p.Ala644Thr | |
| XM_005273411.1:c.1762G>A | XP_005273468.1:p.Ala588Thr | |
| NM_001363227.1:c.1930G>A | NP_001350156.1:p.Ala644Thr | |
| NM_001363228.1:c.1651G>A | NP_001350157.1:p.Ala551Thr | |
| NM_001363229.1:c.979G>A | NP_001350158.1:p.Ala327Thr | |
| NM_152419.3:c.1843G>A MANE Select | NP_689632.2:p.Ala615Thr | |
| NM_001363227.2:c.1930G>A | NP_001350156.1:p.Ala644Thr | |
| NM_001363228.2:c.1651G>A | NP_001350157.1:p.Ala551Thr | |
| NM_001363229.2:c.979G>A | NP_001350158.1:p.Ala327Thr |