Linked Data
ClinVar Variation Id:
359116
dbSNP Id:
rs769811983
ExAC:
7:143042807 C / T
gnomAD v2:
7-143042807-C-T
gnomAD v3:
7-143345714-C-T
gnomAD v4:
7-143345714-C-T
COSMIC:
COSM4620833
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143345714C>T , CM000669.2:g.143345714C>T | GRCh38 |
| NC_000007.13:g.143042807C>T , CM000669.1:g.143042807C>T | GRCh37 |
| NC_000007.12:g.142752929C>T | NCBI36 |
| NG_009815.1:g.34589C>T | |
| NG_009815.2:g.34589C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2124C>T | ENSP00000498052.2:p.Phe708= | |
| ENST00000343257.7:c.2124C>T MANE Select | ENSP00000339867.2:p.Phe708= | |
| ENST00000432192.6:c.1948C>T | ||
| ENST00000343257.6:c.2124C>T | ENSP00000339867.2:p.Phe708= | |
| NM_000083.2:c.2124C>T | NP_000074.2:p.Phe708= | |
| NR_046453.1:n.2064C>T | ||
| XM_011515781.1:c.2148C>T | XP_011514083.1:p.Phe716= | |
| XM_011515782.1:c.870C>T | XP_011514084.1:p.Phe290= | |
| XM_011515782.2:c.870C>T | XP_011514084.1:p.Phe290= | |
| XM_017011739.1:c.1698C>T | XP_016867228.1:p.Phe566= | |
| XM_017011740.1:c.1674C>T | XP_016867229.1:p.Phe558= | |
| NM_000083.3:c.2124C>T MANE Select | NP_000074.3:p.Phe708= | |
| NR_046453.2:n.2079C>T |