Linked Data
ClinVar Variation Id:
456732
ClinVar RCV Id:
RCV000553010
RCV001084966
RCV001125753
RCV001125755
RCV002279326
RCV001125754
RCV002448621
dbSNP Id:
rs149301001
ExAC:
17:48272623 G / A
gnomAD v2:
17-48272623-G-A
gnomAD v3:
17-50195262-G-A
gnomAD v4:
17-50195262-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50195262G>A , CM000679.2:g.50195262G>A | GRCh38 |
| NC_000017.10:g.48272623G>A , CM000679.1:g.48272623G>A | GRCh37 |
| NC_000017.9:g.45627622G>A | NCBI36 |
| NG_007400.1:g.11378C>T , LRG_1:g.11378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1269C>T MANE Select | ENSP00000225964.6:p.Pro423= | |
| ENST00000225964.9:c.1269C>T | ENSP00000225964.5:p.Pro423= | |
| ENST00000471344.1:n.213C>T | ||
| NM_000088.3:c.1269C>T , LRG_1t1:c.1269C>T | NP_000079.2:p.Pro423= | |
| XM_005257058.3:c.1269C>T | XP_005257115.2:p.Pro423= | |
| XM_005257059.3:c.957+1052C>T | XP_005257116.2:n.957+1052C>T | |
| XM_011524341.1:c.1071C>T | XP_011522643.1:p.Pro357= | |
| XM_005257058.4:c.1269C>T | XP_005257115.2:p.Pro423= | |
| XM_005257059.4:c.957+1052C>T | XP_005257116.2:n.957+1052C>T | |
| NM_000088.4:c.1269C>T MANE Select | NP_000079.2:p.Pro423= |