Linked Data
ClinVar Variation Id:
227951
dbSNP Id:
rs761139326
ExAC:
7:107342415 C / T
gnomAD v2:
7-107342415-C-T
gnomAD v3:
7-107701970-C-T
gnomAD v4:
7-107701970-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107701970C>T , CM000669.2:g.107701970C>T | GRCh38 |
| NC_000007.13:g.107342415C>T , CM000669.1:g.107342415C>T | GRCh37 |
| NC_000007.12:g.107129651C>T | NCBI36 |
| NG_008489.1:g.46336C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1947C>T MANE Select | ENSP00000494017.1:p.Asn649= | |
| ENST00000644846.1:c.658C>T | ||
| ENST00000265715.7:c.1947C>T | ENSP00000265715.3:p.Asn649= | |
| ENST00000492030.2:n.234C>T | ||
| NM_000441.1:c.1947C>T | NP_000432.1:p.Asn649= | |
| XM_005250425.1:c.1947C>T | XP_005250482.1:p.Asn649= | |
| XM_005250425.2:c.1947C>T | XP_005250482.1:p.Asn649= | |
| XM_017012318.1:c.1869C>T | XP_016867807.1:p.Asn623= | |
| NM_000441.2:c.1947C>T MANE Select | NP_000432.1:p.Asn649= |