Linked Data
ClinVar Variation Id:
43538
dbSNP Id:
rs17154347
ExAC:
7:107350539 C / T
gnomAD v2:
7-107350539-C-T
gnomAD v3:
7-107710094-C-T
gnomAD v4:
7-107710094-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107710094C>T , CM000669.2:g.107710094C>T | GRCh38 |
| NC_000007.13:g.107350539C>T , CM000669.1:g.107350539C>T | GRCh37 |
| NC_000007.12:g.107137775C>T | NCBI36 |
| NG_008489.1:g.54460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.2130C>T MANE Select | ENSP00000494017.1:p.Asp710= | |
| ENST00000644846.1:c.786C>T | ||
| ENST00000265715.7:c.2130C>T | ENSP00000265715.3:p.Asp710= | |
| ENST00000492030.2:n.377-61C>T | ||
| NM_000441.1:c.2130C>T | NP_000432.1:p.Asp710= | |
| XM_005250425.1:c.2130C>T | XP_005250482.1:p.Asp710= | |
| XM_005250425.2:c.2130C>T | XP_005250482.1:p.Asp710= | |
| XM_017012318.1:c.2052C>T | XP_016867807.1:p.Asp684= | |
| NM_000441.2:c.2130C>T MANE Select | NP_000432.1:p.Asp710= |