Linked Data
ClinVar Variation Id:
512651
ClinVar RCV Id:
RCV000877735
RCV001125580
RCV001125579
RCV001125581
RCV001697902
RCV002431790
RCV004547731
dbSNP Id:
rs150803124
ExAC:
17:48268812 C / T
gnomAD v2:
17-48268812-C-T
gnomAD v3:
17-50191451-C-T
gnomAD v4:
17-50191451-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50191451C>T , CM000679.2:g.50191451C>T | GRCh38 |
| NC_000017.10:g.48268812C>T , CM000679.1:g.48268812C>T | GRCh37 |
| NC_000017.9:g.45623811C>T | NCBI36 |
| NG_007400.1:g.15189G>A , LRG_1:g.15189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.2167G>A MANE Select | ENSP00000225964.6:p.Ala723Thr | |
| ENST00000225964.9:c.2167G>A | ENSP00000225964.5:p.Ala723Thr | |
| ENST00000476387.1:n.516G>A | ||
| NM_000088.3:c.2167G>A , LRG_1t1:c.2167G>A | NP_000079.2:p.Ala723Thr | |
| XM_005257058.3:c.2167G>A | XP_005257115.2:p.Ala723Thr | |
| XM_005257059.3:c.1249G>A | XP_005257116.2:p.Ala417Thr | |
| XM_011524341.1:c.1969G>A | XP_011522643.1:p.Ala657Thr | |
| XM_005257058.4:c.2167G>A | XP_005257115.2:p.Ala723Thr | |
| XM_005257059.4:c.1249G>A | XP_005257116.2:p.Ala417Thr | |
| NM_000088.4:c.2167G>A MANE Select | NP_000079.2:p.Ala723Thr |