Linked Data
ClinVar Variation Id:
258901
dbSNP Id:
rs749438586
ExAC:
1:2160700 C / T
gnomAD v2:
1-2160700-C-T
gnomAD v3:
1-2229261-C-T
gnomAD v4:
1-2229261-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2229261C>T , CM000663.2:g.2229261C>T | GRCh38 |
| NC_000001.10:g.2160700C>T , CM000663.1:g.2160700C>T | GRCh37 |
| NC_000001.9:g.2150560C>T | NCBI36 |
| NG_013084.1:g.5567C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704337.1:n.137+1737C>T | ||
| ENST00000378536.5:c.495C>T MANE Select | ENSP00000367797.4:p.Gly165= | |
| ENST00000378536.4:c.495C>T | ENSP00000367797.4:p.Gly165= | |
| NM_003036.3:c.495C>T | NP_003027.1:p.Gly165= | |
| XM_005244775.2:c.495C>T | XP_005244832.1:p.Gly165= | |
| XM_005244775.3:c.495C>T | XP_005244832.1:p.Gly165= | |
| NM_003036.4:c.495C>T MANE Select | NP_003027.1:p.Gly165= |