Linked Data
ClinVar Variation Id:
359128
dbSNP Id:
rs143082508
ExAC:
7:143048992 C / T
gnomAD v2:
7-143048992-C-T
gnomAD v3:
7-143351899-C-T
gnomAD v4:
7-143351899-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351899C>T , CM000669.2:g.143351899C>T | GRCh38 |
| NC_000007.13:g.143048992C>T , CM000669.1:g.143048992C>T | GRCh37 |
| NC_000007.12:g.142759114C>T | NCBI36 |
| NG_009815.1:g.40774C>T | |
| NG_009815.2:g.40774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2901C>T | ENSP00000498052.2:p.Ala967= | |
| ENST00000343257.7:c.2901C>T MANE Select | ENSP00000339867.2:p.Ala967= | |
| ENST00000343257.6:c.2901C>T | ENSP00000339867.2:p.Ala967= | |
| NM_000083.2:c.2901C>T | NP_000074.2:p.Ala967= | |
| NR_046453.1:n.2841C>T | ||
| XM_011515781.1:c.2925C>T | XP_011514083.1:p.Ala975= | |
| XM_011515782.1:c.1647C>T | XP_011514084.1:p.Ala549= | |
| XM_011515782.2:c.1647C>T | XP_011514084.1:p.Ala549= | |
| XM_017011739.1:c.2475C>T | XP_016867228.1:p.Ala825= | |
| XM_017011740.1:c.2451C>T | XP_016867229.1:p.Ala817= | |
| NM_000083.3:c.2901C>T MANE Select | NP_000074.3:p.Ala967= | |
| NR_046453.2:n.2856C>T |