Linked Data
ClinVar Variation Id:
383178
dbSNP Id:
rs148628123
ExAC:
19:39219977 G / A
gnomAD v2:
19-39219977-G-A
gnomAD v3:
19-38729337-G-A
gnomAD v4:
19-38729337-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38729337G>A , CM000681.2:g.38729337G>A | GRCh38 |
| NC_000019.9:g.39219977G>A , CM000681.1:g.39219977G>A | GRCh37 |
| NC_000019.8:g.43911817G>A | NCBI36 |
| NG_007082.2:g.86651G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440400.3:c.2626G>A | ENSP00000398393.2:p.Ala876Thr | |
| ENST00000697712.1:c.2500G>A | ENSP00000513410.1:p.Ala834Thr | |
| ENST00000252699.7:c.2641G>A MANE Select | ENSP00000252699.2:p.Ala881Thr | |
| ENST00000424234.7:c.2641G>A | ENSP00000411187.4:p.Ala881Thr | |
| ENST00000440400.2:c.2626G>A | ENSP00000398393.2:p.Ala876Thr | |
| ENST00000252699.6:c.2641G>A | ENSP00000252699.2:p.Ala881Thr | |
| ENST00000390009.7:c.1984G>A | ENSP00000439497.1:p.Ala662Thr | |
| ENST00000424234.6:c.1471G>A | ENSP00000411187.3:p.Ala491Thr | |
| ENST00000440400.1:c.934G>A | ENSP00000398393.1:p.Ala312Thr | |
| ENST00000477174.1:n.460G>A | ||
| ENST00000497637.5:n.394G>A | ||
| ENST00000589528.1:c.286-652G>A | ||
| NM_004924.4:c.2641G>A | NP_004915.2:p.Ala881Thr | |
| XM_005259281.3:c.2626G>A | XP_005259338.1:p.Ala876Thr | |
| XM_005259282.3:c.2626G>A | XP_005259339.1:p.Ala876Thr | |
| XM_006723406.1:c.2641G>A | XP_006723469.1:p.Ala881Thr | |
| NM_001322033.1:c.2626G>A | NP_001308962.1:p.Ala876Thr | |
| NM_004924.5:c.2641G>A | NP_004915.2:p.Ala881Thr | |
| XM_005259281.5:c.2626G>A | XP_005259338.1:p.Ala876Thr | |
| XM_006723406.3:c.2641G>A | XP_006723469.1:p.Ala881Thr | |
| XM_017027331.2:c.2707G>A | XP_016882820.1:p.Ala903Thr | |
| NM_004924.6:c.2641G>A MANE Select | NP_004915.2:p.Ala881Thr | |
| NM_001322033.2:c.2626G>A | NP_001308962.1:p.Ala876Thr |