Linked Data
ClinVar Variation Id:
35897
ClinVar RCV Id:
RCV000029552
RCV000262664
RCV000367913
RCV000599940
RCV000320157
RCV002399337
RCV000521409
RCV000560142
RCV002276573
dbSNP Id:
rs139955975
ExAC:
17:48273298 C / T
gnomAD v2:
17-48273298-C-T
gnomAD v3:
17-50195937-C-T
gnomAD v4:
17-50195937-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50195937C>T , CM000679.2:g.50195937C>T | GRCh38 |
| NC_000017.10:g.48273298C>T , CM000679.1:g.48273298C>T | GRCh37 |
| NC_000017.9:g.45628297C>T | NCBI36 |
| NG_007400.1:g.10703G>A , LRG_1:g.10703G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1042G>A MANE Select | ENSP00000225964.6:p.Ala348Thr | |
| ENST00000225964.9:c.1042G>A | ENSP00000225964.5:p.Ala348Thr | |
| NM_000088.3:c.1042G>A , LRG_1t1:c.1042G>A | NP_000079.2:p.Ala348Thr | |
| XM_005257058.3:c.1042G>A | XP_005257115.2:p.Ala348Thr | |
| XM_005257059.3:c.957+377G>A | XP_005257116.2:n.957+377G>A | |
| XM_011524341.1:c.957+377G>A | XP_011522643.1:n.957+377G>A | |
| XM_005257058.4:c.1042G>A | XP_005257115.2:p.Ala348Thr | |
| XM_005257059.4:c.957+377G>A | XP_005257116.2:n.957+377G>A | |
| NM_000088.4:c.1042G>A MANE Select | NP_000079.2:p.Ala348Thr |