Linked Data
ClinVar Variation Id:
388770
ClinVar RCV Id:
RCV000419876
dbSNP Id:
rs763222869
gnomAD v2:
17-48270060-C-T
gnomAD v3:
17-50192699-C-T
gnomAD v4:
17-50192699-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50192699C>T , CM000679.2:g.50192699C>T | GRCh38 |
| NC_000017.10:g.48270060C>T , CM000679.1:g.48270060C>T | GRCh37 |
| NC_000017.9:g.45625059C>T | NCBI36 |
| NG_007400.1:g.13941G>A , LRG_1:g.13941G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1876-6G>A MANE Select | ENSP00000225964.6:n.1876-6G>A | |
| ENST00000225964.9:c.1876-6G>A | ENSP00000225964.5:n.1876-6G>A | |
| ENST00000476387.1:n.225-6G>A | ||
| NM_000088.3:c.1876-6G>A , LRG_1t1:c.1876-6G>A | NP_000079.2:n.1876-6G>A | |
| XM_005257058.3:c.1876-6G>A | XP_005257115.2:n.1876-6G>A | |
| XM_005257059.3:c.958-6G>A | XP_005257116.2:n.958-6G>A | |
| XM_011524341.1:c.1678-6G>A | XP_011522643.1:n.1678-6G>A | |
| XM_005257058.4:c.1876-6G>A | XP_005257115.2:n.1876-6G>A | |
| XM_005257059.4:c.958-6G>A | XP_005257116.2:n.958-6G>A | |
| NM_000088.4:c.1876-6G>A MANE Select | NP_000079.2:n.1876-6G>A |