Linked Data
ClinVar Variation Id:
11768
ClinVar RCV Id:
RCV000012534
dbSNP Id:
rs137853316
PubMed:
PMID:16596676
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154354860C>A , CM000685.2:g.154354860C>A | GRCh38 |
| NC_000023.10:g.153583228C>A , CM000685.1:g.153583228C>A | GRCh37 |
| NC_000023.9:g.153236422C>A | NCBI36 |
| NG_011506.1:g.24779G>T | |
| NG_011506.2:g.24779G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360319.9:c.5158G>T | ENSP00000353467.4:p.Gly1720Cys | |
| ENST00000369850.10:c.5182G>T MANE Select | ENSP00000358866.3:p.Gly1728Cys | |
| ENST00000369856.8:c.5101G>T | ENSP00000358872.4:p.Gly1701Cys | |
| ENST00000422373.6:c.3161-2185G>T | ENSP00000416926.2:n.3161-2185G>T | |
| ENST00000610817.5:c.5239G>T | ENSP00000480593.2:n.5239G>T | |
| ENST00000673639.2:c.280-6170G>T | ||
| ENST00000676696.1:c.5461G>T | ENSP00000503392.1:n.5461G>T | |
| ENST00000678304.1:n.361G>T | ||
| ENST00000344736.8:c.5158G>T | ENSP00000358863.3:p.Gly1720Cys | |
| ENST00000360319.8:c.5158G>T | ENSP00000353467.4:p.Gly1720Cys | |
| ENST00000369850.7:c.5182G>T | ENSP00000358866.3:p.Gly1728Cys | |
| ENST00000369856.7:c.5101G>T | ENSP00000358872.4:p.Gly1701Cys | |
| ENST00000420627.5:c.5138G>T | ENSP00000408921.1:n.5138G>T | |
| ENST00000422373.5:c.5158G>T | ENSP00000416926.1:p.Gly1720Cys | |
| ENST00000438732.2:c.30G>T | ||
| ENST00000490936.5:n.1171G>T | ||
| ENST00000610817.4:c.5101G>T | ENSP00000480593.1:p.Gly1701Cys | |
| NM_001110556.1:c.5182G>T | NP_001104026.1:p.Gly1728Cys | |
| NM_001456.3:c.5158G>T | NP_001447.2:p.Gly1720Cys | |
| XM_011531127.1:c.5182G>T | XP_011529429.1:p.Gly1728Cys | |
| XM_011531128.1:c.5158G>T | XP_011529430.1:p.Gly1720Cys | |
| XM_011531129.1:c.5182G>T | XP_011529431.1:p.Gly1728Cys | |
| XM_011531130.1:c.5158G>T | XP_011529432.1:p.Gly1720Cys | |
| XM_011531131.1:c.4981G>T | XP_011529433.1:p.Gly1661Cys | |
| NM_001110556.2:c.5182G>T MANE Select | NP_001104026.1:p.Gly1728Cys | |
| NM_001456.4:c.5158G>T | NP_001447.2:p.Gly1720Cys |