Linked Data
ClinVar Variation Id:
2197170
ClinVar RCV Id:
RCV002624747
dbSNP Id:
rs374753445
ExAC:
2:109388337 T / C
gnomAD v2:
2-109388337-T-C
gnomAD v3:
2-108771881-T-C
gnomAD v4:
2-108771881-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108771881T>C , CM000664.2:g.108771881T>C | GRCh38 |
| NC_000002.11:g.109388337T>C , CM000664.1:g.109388337T>C | GRCh37 |
| NC_000002.10:g.108754769T>C | NCBI36 |
| NG_012210.1:g.57401T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697737.1:c.2773+10T>C | ENSP00000513426.1:n.2773+10T>C | |
| ENST00000697740.1:c.2695+10T>C | ENSP00000513427.1:n.2695+10T>C | |
| ENST00000697744.1:c.2886+10T>C | ||
| ENST00000697745.1:c.2886+10T>C | ||
| ENST00000697746.1:n.4154T>C | ||
| ENST00000697747.1:c.729+10T>C | ||
| ENST00000697748.1:n.3634+10T>C | ||
| ENST00000283195.11:c.8020+10T>C MANE Select | ENSP00000283195.6:n.8020+10T>C | |
| ENST00000283195.10:c.8020+10T>C | ENSP00000283195.6:n.8020+10T>C | |
| NM_006267.4:c.8020+10T>C | NP_006258.3:n.8020+10T>C | |
| XM_005264002.1:c.8098+10T>C | XP_005264059.1:n.8098+10T>C | |
| XM_005264003.1:c.8098+10T>C | XP_005264060.1:n.8098+10T>C | |
| XM_005264004.1:c.8020+10T>C | XP_005264061.1:n.8020+10T>C | |
| XM_005264005.3:c.8020+10T>C | XP_005264062.1:n.8020+10T>C | |
| XM_005264007.1:c.5170+10T>C | XP_005264064.1:n.5170+10T>C | |
| XM_011511575.1:c.8095+10T>C | XP_011509877.1:n.8095+10T>C | |
| XM_011511576.1:c.7921+10T>C | XP_011509878.1:n.7921+10T>C | |
| XM_011511577.1:c.5386+10T>C | XP_011509879.1:n.5386+10T>C | |
| XM_011511578.1:c.5167+10T>C | XP_011509880.1:n.5167+10T>C | |
| XM_005264002.3:c.8098+10T>C | XP_005264059.1:n.8098+10T>C | |
| XM_005264003.3:c.8098+10T>C | XP_005264060.1:n.8098+10T>C | |
| XM_005264004.3:c.8020+10T>C | XP_005264061.1:n.8020+10T>C | |
| XM_005264005.4:c.8020+10T>C | XP_005264062.1:n.8020+10T>C | |
| XM_005264007.3:c.5170+10T>C | XP_005264064.1:n.5170+10T>C | |
| XM_011511575.2:c.8095+10T>C | XP_011509877.1:n.8095+10T>C | |
| XM_011511576.3:c.7921+10T>C | XP_011509878.1:n.7921+10T>C | |
| XM_011511578.2:c.5167+10T>C | XP_011509880.1:n.5167+10T>C | |
| XM_017004623.2:c.8098+10T>C | XP_016860112.1:n.8098+10T>C | |
| NM_006267.5:c.8020+10T>C MANE Select | NP_006258.3:n.8020+10T>C |