Linked Data
ClinVar Variation Id:
1041740
ClinVar RCV Id:
RCV001345593
dbSNP Id:
rs41316667
ExAC:
17:48270355 G / C
gnomAD v2:
17-48270355-G-C
gnomAD v3:
17-50192994-G-C
gnomAD v4:
17-50192994-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50192994G>C , CM000679.2:g.50192994G>C | GRCh38 |
| NC_000017.10:g.48270355G>C , CM000679.1:g.48270355G>C | GRCh37 |
| NC_000017.9:g.45625354G>C | NCBI36 |
| NG_007400.1:g.13646C>G , LRG_1:g.13646C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1821C>G MANE Select | ENSP00000225964.6:p.Val607= | |
| ENST00000225964.9:c.1821C>G | ENSP00000225964.5:p.Val607= | |
| ENST00000476387.1:n.170C>G | ||
| NM_000088.3:c.1821C>G , LRG_1t1:c.1821C>G | NP_000079.2:p.Val607= | |
| XM_005257058.3:c.1821C>G | XP_005257115.2:p.Val607= | |
| XM_005257059.3:c.958-301C>G | XP_005257116.2:n.958-301C>G | |
| XM_011524341.1:c.1623C>G | XP_011522643.1:p.Val541= | |
| XM_005257058.4:c.1821C>G | XP_005257115.2:p.Val607= | |
| XM_005257059.4:c.958-301C>G | XP_005257116.2:n.958-301C>G | |
| NM_000088.4:c.1821C>G MANE Select | NP_000079.2:p.Val607= |