Linked Data
ClinVar Variation Id:
700035
dbSNP Id:
rs150641952
ExAC:
16:56370655 C / T
gnomAD v2:
16-56370655-C-T
gnomAD v3:
16-56336743-C-T
gnomAD v4:
16-56336743-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56336743C>T , CM000678.2:g.56336743C>T | GRCh38 |
| NC_000016.9:g.56370655C>T , CM000678.1:g.56370655C>T | GRCh37 |
| NC_000016.8:g.54928156C>T | NCBI36 |
| NG_042800.1:g.150405C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.606C>T | ENSP00000262494.7:p.Val202= | |
| ENST00000262493.12:c.606C>T MANE Select | ENSP00000262493.6:p.Val202= | |
| ENST00000262494.12:c.606C>T | ENSP00000262494.7:p.Val202= | |
| ENST00000562316.6:c.273C>T | ENSP00000457238.2:p.Val91= | |
| ENST00000638185.1:n.821C>T | ||
| ENST00000638210.1:n.906C>T | ||
| ENST00000638705.1:c.606C>T | ENSP00000491223.1:p.Val202= | |
| ENST00000638836.1:n.516C>T | ||
| ENST00000639055.1:n.1327C>T | ||
| ENST00000639251.1:n.507C>T | ||
| ENST00000639268.1:c.241C>T | ||
| ENST00000639341.1:c.131C>T | ||
| ENST00000639770.1:c.644C>T | ENSP00000491999.1:n.644C>T | |
| ENST00000640390.1:n.536C>T | ||
| ENST00000640560.1:n.382C>T | ||
| ENST00000640893.1:c.*4C>T | ENSP00000492677.1:n.*4C>T | |
| ENST00000262493.10:c.606C>T | ENSP00000262493.6:p.Val202= | |
| ENST00000262494.11:c.606C>T | ENSP00000262494.7:p.Val202= | |
| NM_020988.2:c.606C>T | NP_066268.1:p.Val202= | |
| NM_138736.2:c.606C>T | NP_620073.2:p.Val202= | |
| XM_011523003.1:c.480C>T | XP_011521305.1:p.Val160= | |
| XM_011523003.3:c.480C>T | XP_011521305.1:p.Val160= | |
| NM_020988.3:c.606C>T MANE Select | NP_066268.1:p.Val202= | |
| NM_138736.3:c.606C>T | NP_620073.2:p.Val202= |