Linked Data
ClinVar Variation Id:
14297
dbSNP Id:
rs121913573
gnomAD v3:
6-129287893-T-C
gnomAD v4:
6-129287893-T-C
PubMed:
PMID:12552556
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129287893T>C , CM000668.2:g.129287893T>C | GRCh38 |
| NC_000006.11:g.129609038T>C , CM000668.1:g.129609038T>C | GRCh37 |
| NC_000006.10:g.129650731T>C | NCBI36 |
| NG_008678.1:g.409753T>C , LRG_409:g.409753T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617695.5:c.2584T>C | ENSP00000481744.2:p.Cys862Arg | |
| ENST00000618192.5:c.2584T>C | ENSP00000480802.2:p.Cys862Arg | |
| ENST00000421865.3:c.2584T>C MANE Select | ENSP00000400365.2:p.Cys862Arg | |
| ENST00000421865.2:c.2584T>C | ENSP00000400365.2:p.Cys862Arg | |
| ENST00000617695.4:c.2584T>C | ENSP00000481744.1:p.Cys862Arg | |
| ENST00000618192.4:c.2584T>C | ENSP00000480802.1:p.Cys862Arg | |
| NM_000426.3:c.2584T>C , LRG_409t1:c.2584T>C | NP_000417.2:p.Cys862Arg | |
| NM_001079823.1:c.2584T>C | NP_001073291.1:p.Cys862Arg | |
| XM_005266981.2:c.2584T>C | XP_005267038.1:p.Cys862Arg | |
| XM_005266982.2:c.2584T>C | XP_005267039.1:p.Cys862Arg | |
| XM_011535820.1:c.2584T>C | XP_011534122.1:p.Cys862Arg | |
| XM_005266981.3:c.2584T>C | XP_005267038.1:p.Cys862Arg | |
| XM_005266982.3:c.2584T>C | XP_005267039.1:p.Cys862Arg | |
| XM_011535820.2:c.2584T>C | XP_011534122.1:p.Cys862Arg | |
| XM_017010851.2:c.2590T>C | XP_016866340.1:p.Cys864Arg | |
| XM_017010852.1:c.715T>C | XP_016866341.1:p.Cys239Arg | |
| XM_017010853.1:c.2584T>C | XP_016866342.1:p.Cys862Arg | |
| NM_000426.4:c.2584T>C MANE Select | NP_000417.3:p.Cys862Arg | |
| NM_001079823.2:c.2584T>C | NP_001073291.2:p.Cys862Arg |