Linked Data
ClinVar Variation Id:
3016
ClinVar RCV Id:
RCV002482819
dbSNP Id:
rs119466002
ExAC:
4:122775945 G / A
gnomAD v2:
4-122775945-G-A
gnomAD v3:
4-121854790-G-A
gnomAD v4:
4-121854790-G-A
PubMed:
PMID:12567324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121854790G>A , CM000666.2:g.121854790G>A | GRCh38 |
| NC_000004.11:g.122775945G>A , CM000666.1:g.122775945G>A | GRCh37 |
| NC_000004.10:g.122995395G>A | NCBI36 |
| NG_009111.1:g.20698C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264499.9:c.632C>T MANE Select | ENSP00000264499.4:p.Thr211Ile | |
| ENST00000264499.8:c.632C>T | ENSP00000264499.4:p.Thr211Ile | |
| ENST00000506636.1:c.632C>T | ENSP00000423626.1:p.Thr211Ile | |
| NM_018190.3:c.632C>T | NP_060660.2:p.Thr211Ile | |
| NM_176824.2:c.632C>T | NP_789794.1:p.Thr211Ile | |
| XM_005263106.2:c.635C>T | XP_005263163.1:p.Thr212Ile | |
| XM_011532079.1:c.680C>T | XP_011530381.1:p.Thr227Ile | |
| XM_011532080.1:c.677C>T | XP_011530382.1:p.Thr226Ile | |
| XM_011532081.1:c.680C>T | XP_011530383.1:p.Thr227Ile | |
| XM_005263106.4:c.635C>T | XP_005263163.1:p.Thr212Ile | |
| XM_011532079.3:c.680C>T | XP_011530381.1:p.Thr227Ile | |
| XM_011532080.3:c.677C>T | XP_011530382.1:p.Thr226Ile | |
| XM_011532081.3:c.680C>T | XP_011530383.1:p.Thr227Ile | |
| XM_017008357.2:c.632C>T | XP_016863846.1:p.Thr211Ile | |
| XM_017008358.2:c.635C>T | XP_016863847.1:p.Thr212Ile | |
| NM_176824.3:c.632C>T MANE Select | NP_789794.1:p.Thr211Ile | |
| NM_018190.4:c.632C>T | NP_060660.2:p.Thr211Ile |