Linked Data
ClinVar Variation Id:
196607
ClinVar RCV Id:
RCV000177437
RCV000659353
RCV000514224
RCV001125582
RCV001127681
RCV001127682
RCV000989945
RCV002277393
RCV002415762
RCV003993859
RCV004552992
dbSNP Id:
rs66592376
ExAC:
17:48269390 G / T
gnomAD v2:
17-48269390-G-T
gnomAD v3:
17-50192029-G-T
gnomAD v4:
17-50192029-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50192029G>T , CM000679.2:g.50192029G>T | GRCh38 |
| NC_000017.10:g.48269390G>T , CM000679.1:g.48269390G>T | GRCh37 |
| NC_000017.9:g.45624389G>T | NCBI36 |
| NG_007400.1:g.14611C>A , LRG_1:g.14611C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1984-5C>A MANE Select | ENSP00000225964.6:n.1984-5C>A | |
| ENST00000225964.9:c.1984-5C>A | ENSP00000225964.5:n.1984-5C>A | |
| ENST00000476387.1:n.333-5C>A | ||
| ENST00000504289.1:n.411C>A | ||
| NM_000088.3:c.1984-5C>A , LRG_1t1:c.1984-5C>A | NP_000079.2:n.1984-5C>A | |
| XM_005257058.3:c.1984-5C>A | XP_005257115.2:n.1984-5C>A | |
| XM_005257059.3:c.1066-5C>A | XP_005257116.2:n.1066-5C>A | |
| XM_011524341.1:c.1786-5C>A | XP_011522643.1:n.1786-5C>A | |
| XM_005257058.4:c.1984-5C>A | XP_005257115.2:n.1984-5C>A | |
| XM_005257059.4:c.1066-5C>A | XP_005257116.2:n.1066-5C>A | |
| NM_000088.4:c.1984-5C>A MANE Select | NP_000079.2:n.1984-5C>A |