Linked Data
ClinVar Variation Id:
392559
dbSNP Id:
rs141945240
ExAC:
7:143039483 T / C
gnomAD v2:
7-143039483-T-C
gnomAD v3:
7-143342390-T-C
gnomAD v4:
7-143342390-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143342390T>C , CM000669.2:g.143342390T>C | GRCh38 |
| NC_000007.13:g.143039483T>C , CM000669.1:g.143039483T>C | GRCh37 |
| NC_000007.12:g.142749605T>C | NCBI36 |
| NG_009815.1:g.31265T>C | |
| NG_009815.2:g.31265T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1815T>C | ENSP00000498052.2:p.Val605= | |
| ENST00000343257.7:c.1815T>C MANE Select | ENSP00000339867.2:p.Val605= | |
| ENST00000432192.6:c.1639T>C | ||
| ENST00000343257.6:c.1815T>C | ENSP00000339867.2:p.Val605= | |
| NM_000083.2:c.1815T>C | NP_000074.2:p.Val605= | |
| NR_046453.1:n.1755T>C | ||
| XM_011515781.1:c.1839T>C | XP_011514083.1:p.Val613= | |
| XM_011515782.1:c.561T>C | XP_011514084.1:p.Val187= | |
| XM_011515782.2:c.561T>C | XP_011514084.1:p.Val187= | |
| XM_017011739.1:c.1389T>C | XP_016867228.1:p.Val463= | |
| XM_017011740.1:c.1365T>C | XP_016867229.1:p.Val455= | |
| NM_000083.3:c.1815T>C MANE Select | NP_000074.3:p.Val605= | |
| NR_046453.2:n.1770T>C |