Linked Data
ClinVar Variation Id:
2723498
ClinVar RCV Id:
RCV003499567
dbSNP Id:
rs559812857
ExAC:
12:116429681 G / A
gnomAD v2:
12-116429681-G-A
gnomAD v3:
12-115991876-G-A
gnomAD v4:
12-115991876-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115991876G>A , CM000674.2:g.115991876G>A | GRCh38 |
| NC_000012.11:g.116429681G>A , CM000674.1:g.116429681G>A | GRCh37 |
| NC_000012.10:g.114914064G>A | NCBI36 |
| NG_023366.1:g.290311C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.3078C>T MANE Select | ENSP00000281928.3:p.Ser1026= | |
| ENST00000548743.2:c.3048C>T | ENSP00000448553.2:p.Ser1016= | |
| ENST00000549786.2:c.2506C>T | ||
| ENST00000648173.1:n.1873C>T | ||
| ENST00000648379.1:n.1446C>T | ||
| ENST00000648737.1:n.2842C>T | ||
| ENST00000648916.1:n.1089C>T | ||
| ENST00000649607.1:c.1262C>T | ||
| ENST00000650226.1:c.3078C>T | ENSP00000496981.1:p.Ser1026= | |
| ENST00000281928.7:c.3078C>T | ENSP00000281928.3:p.Ser1026= | |
| NM_015335.4:c.3078C>T | NP_056150.1:p.Ser1026= | |
| XM_011538080.1:c.3078C>T | XP_011536382.1:p.Ser1026= | |
| XM_011538081.1:c.3075C>T | XP_011536383.1:p.Ser1025= | |
| XM_011538082.1:c.3048C>T | XP_011536384.1:p.Ser1016= | |
| XM_011538080.2:c.3078C>T | XP_011536382.1:p.Ser1026= | |
| XM_011538081.2:c.3075C>T | XP_011536383.1:p.Ser1025= | |
| XM_011538082.2:c.3048C>T | XP_011536384.1:p.Ser1016= | |
| XM_017019090.1:c.3075C>T | XP_016874579.1:p.Ser1025= | |
| NM_015335.5:c.3078C>T MANE Select | NP_056150.1:p.Ser1026= |