Linked Data
ClinVar Variation Id:
196007
ClinVar RCV Id:
RCV000176717
RCV000265657
RCV000357800
RCV000323067
RCV000556050
RCV001087529
RCV002277381
RCV002408766
RCV004552984
dbSNP Id:
rs149561221
ExAC:
17:48270160 C / T
gnomAD v2:
17-48270160-C-T
gnomAD v3:
17-50192799-C-T
gnomAD v4:
17-50192799-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50192799C>T , CM000679.2:g.50192799C>T | GRCh38 |
| NC_000017.10:g.48270160C>T , CM000679.1:g.48270160C>T | GRCh37 |
| NC_000017.9:g.45625159C>T | NCBI36 |
| NG_007400.1:g.13841G>A , LRG_1:g.13841G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1873G>A MANE Select | ENSP00000225964.6:p.Ala625Thr | |
| ENST00000225964.9:c.1873G>A | ENSP00000225964.5:p.Ala625Thr | |
| ENST00000476387.1:n.222G>A | ||
| NM_000088.3:c.1873G>A , LRG_1t1:c.1873G>A | NP_000079.2:p.Ala625Thr | |
| XM_005257058.3:c.1873G>A | XP_005257115.2:p.Ala625Thr | |
| XM_005257059.3:c.958-106G>A | XP_005257116.2:n.958-106G>A | |
| XM_011524341.1:c.1675G>A | XP_011522643.1:p.Ala559Thr | |
| XM_005257058.4:c.1873G>A | XP_005257115.2:p.Ala625Thr | |
| XM_005257059.4:c.958-106G>A | XP_005257116.2:n.958-106G>A | |
| NM_000088.4:c.1873G>A MANE Select | NP_000079.2:p.Ala625Thr |