Linked Data
dbSNP Id:
rs1599023749
gnomAD v4:
18-46579768-C-T
MyVariant Identifiers:
chr18:g.44159731C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46579768C>T , CM000680.2:g.46579768C>T | GRCh38 |
| NC_000018.9:g.44159731C>T , CM000680.1:g.44159731C>T | GRCh37 |
| NC_000018.8:g.42413729C>T | NCBI36 |
| NG_016646.1:g.82266G>A | |
| NG_016646.2:g.82266G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642948.1:c.1671G>A MANE Select | ENSP00000496347.1:p.Val557= | |
| ENST00000335730.6:n.984G>A | ||
| ENST00000441551.6:c.1671G>A | ENSP00000387621.2:p.Val557= | |
| ENST00000536736.5:c.1671G>A | ENSP00000444586.1:p.Val557= | |
| NM_144612.6:c.1671G>A | NP_653213.6:p.Val557= | |
| XM_011525803.1:c.1671G>A | XP_011524105.1:p.Val557= | |
| XM_011525804.1:c.-30-1901G>A | XP_011524106.1:n.-30-1901G>A | |
| XM_011525804.2:c.-30-1901G>A | XP_011524106.1:n.-30-1901G>A | |
| XM_017025548.1:c.1671G>A | XP_016881037.1:p.Val557= | |
| XM_024451084.1:c.153G>A | XP_024306852.1:p.Val51= | |
| NM_001384474.1:c.1671G>A MANE Select | NP_001371403.1:p.Val557= | |
| NM_144612.7:c.1671G>A | NP_653213.6:p.Val557= |