Linked Data
ClinVar Variation Id:
380107
dbSNP Id:
rs10185197
ExAC:
2:109400267 C / T
gnomAD v2:
2-109400267-C-T
gnomAD v3:
2-108783811-C-T
gnomAD v4:
2-108783811-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108783811C>T , CM000664.2:g.108783811C>T | GRCh38 |
| NC_000002.11:g.109400267C>T , CM000664.1:g.109400267C>T | GRCh37 |
| NC_000002.10:g.108766699C>T | NCBI36 |
| NG_012210.1:g.69331C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697737.1:c.4338C>T | ENSP00000513426.1:p.Gly1446= | |
| ENST00000697740.1:c.4260C>T | ENSP00000513427.1:p.Gly1420= | |
| ENST00000697744.1:c.5281C>T | ||
| ENST00000697745.1:c.4475C>T | ||
| ENST00000697746.1:n.6326C>T | ||
| ENST00000697747.1:c.2294C>T | ||
| ENST00000697748.1:n.5199C>T | ||
| ENST00000697750.1:n.2549C>T | ||
| ENST00000283195.11:c.9585C>T MANE Select | ENSP00000283195.6:p.Gly3195= | |
| ENST00000283195.10:c.9585C>T | ENSP00000283195.6:p.Gly3195= | |
| NM_006267.4:c.9585C>T | NP_006258.3:p.Gly3195= | |
| XM_005264002.1:c.9687C>T | XP_005264059.1:p.Gly3229= | |
| XM_005264003.1:c.9663C>T | XP_005264060.1:p.Gly3221= | |
| XM_005264004.1:c.9609C>T | XP_005264061.1:p.Gly3203= | |
| XM_005264005.3:c.9609C>T | XP_005264062.1:p.Gly3203= | |
| XM_005264007.1:c.6759C>T | XP_005264064.1:p.Gly2253= | |
| XM_011511575.1:c.9684C>T | XP_011509877.1:p.Gly3228= | |
| XM_011511576.1:c.9510C>T | XP_011509878.1:p.Gly3170= | |
| XM_011511577.1:c.6975C>T | XP_011509879.1:p.Gly2325= | |
| XM_011511578.1:c.6756C>T | XP_011509880.1:p.Gly2252= | |
| XM_005264002.3:c.9687C>T | XP_005264059.1:p.Gly3229= | |
| XM_005264003.3:c.9663C>T | XP_005264060.1:p.Gly3221= | |
| XM_005264004.3:c.9609C>T | XP_005264061.1:p.Gly3203= | |
| XM_005264005.4:c.9609C>T | XP_005264062.1:p.Gly3203= | |
| XM_005264007.3:c.6759C>T | XP_005264064.1:p.Gly2253= | |
| XM_011511575.2:c.9684C>T | XP_011509877.1:p.Gly3228= | |
| XM_011511576.3:c.9510C>T | XP_011509878.1:p.Gly3170= | |
| XM_011511578.2:c.6756C>T | XP_011509880.1:p.Gly2252= | |
| XM_017004623.2:c.8370+10765C>T | XP_016860112.1:n.8370+10765C>T | |
| NM_006267.5:c.9585C>T MANE Select | NP_006258.3:p.Gly3195= |