Linked Data
ClinVar Variation Id:
1570602
ClinVar RCV Id:
RCV002215496
dbSNP Id:
rs2143660697
MyVariant Identifiers:
chr16:g.56368716C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56334804C>A , CM000678.2:g.56334804C>A | GRCh38 |
| NC_000016.9:g.56368716C>A , CM000678.1:g.56368716C>A | GRCh37 |
| NC_000016.8:g.54926217C>A | NCBI36 |
| NG_042800.1:g.148466C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.540C>A | ENSP00000262494.7:p.Val180= | |
| ENST00000262493.12:c.540C>A MANE Select | ENSP00000262493.6:p.Val180= | |
| ENST00000262494.12:c.540C>A | ENSP00000262494.7:p.Val180= | |
| ENST00000562316.6:c.207C>A | ENSP00000457238.2:p.Val69= | |
| ENST00000638185.1:n.755C>A | ||
| ENST00000638210.1:n.840C>A | ||
| ENST00000638705.1:c.540C>A | ENSP00000491223.1:p.Val180= | |
| ENST00000638836.1:n.450C>A | ||
| ENST00000639055.1:n.1261C>A | ||
| ENST00000639251.1:n.441C>A | ||
| ENST00000639268.1:c.229-1927C>A | ||
| ENST00000639341.1:c.65C>A | ||
| ENST00000639770.1:c.578C>A | ENSP00000491999.1:n.578C>A | |
| ENST00000640390.1:n.470C>A | ||
| ENST00000640893.1:c.379C>A | ENSP00000492677.1:p.Gln127Lys | |
| ENST00000262493.10:c.540C>A | ENSP00000262493.6:p.Val180= | |
| ENST00000262494.11:c.540C>A | ENSP00000262494.7:p.Val180= | |
| ENST00000562316.5:c.279C>A | ENSP00000457238.1:p.Val93= | |
| NM_020988.2:c.540C>A | NP_066268.1:p.Val180= | |
| NM_138736.2:c.540C>A | NP_620073.2:p.Val180= | |
| XM_011523003.1:c.414C>A | XP_011521305.1:p.Val138= | |
| XM_011523003.3:c.414C>A | XP_011521305.1:p.Val138= | |
| NM_020988.3:c.540C>A MANE Select | NP_066268.1:p.Val180= | |
| NM_138736.3:c.540C>A | NP_620073.2:p.Val180= |