Linked Data
ClinVar Variation Id:
17535
dbSNP Id:
rs121912801
ExAC:
7:143036620 G / T
gnomAD v2:
7-143036620-G-T
gnomAD v3:
7-143339527-G-T
gnomAD v4:
7-143339527-G-T
PubMed:
PMID:7951242
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143339527G>T , CM000669.2:g.143339527G>T | GRCh38 |
| NC_000007.13:g.143036620G>T , CM000669.1:g.143036620G>T | GRCh37 |
| NC_000007.12:g.142746742G>T | NCBI36 |
| NG_009815.1:g.28402G>T | |
| NG_009815.2:g.28402G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650516.2:c.1488G>T | ENSP00000498052.2:p.Arg496Ser | |
| ENST00000343257.7:c.1488G>T MANE Select | ENSP00000339867.2:p.Arg496Ser | |
| ENST00000432192.6:c.1312G>T | ||
| ENST00000343257.6:c.1488G>T | ENSP00000339867.2:p.Arg496Ser | |
| NM_000083.2:c.1488G>T | NP_000074.2:p.Arg496Ser | |
| NR_046453.1:n.1428G>T | ||
| XM_011515781.1:c.1512G>T | XP_011514083.1:p.Arg504Ser | |
| XM_011515782.1:c.234G>T | XP_011514084.1:p.Arg78Ser | |
| XM_011515782.2:c.234G>T | XP_011514084.1:p.Arg78Ser | |
| XM_017011739.1:c.1062G>T | XP_016867228.1:p.Arg354Ser | |
| XM_017011740.1:c.1038G>T | XP_016867229.1:p.Arg346Ser | |
| NM_000083.3:c.1488G>T MANE Select | NP_000074.3:p.Arg496Ser | |
| NR_046453.2:n.1443G>T |