Linked Data
ClinVar Variation Id:
358510
dbSNP Id:
rs77315223
gnomAD v2:
7-107356505-C-T
gnomAD v3:
7-107716060-C-T
gnomAD v4:
7-107716060-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107716060C>T , CM000669.2:g.107716060C>T | GRCh38 |
| NC_000007.13:g.107356505C>T , CM000669.1:g.107356505C>T | GRCh37 |
| NC_000007.12:g.107143741C>T | NCBI36 |
| NG_008489.1:g.60426C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.*614C>T MANE Select | ENSP00000494017.1:n.*614C>T | |
| ENST00000644846.1:c.1613C>T | ||
| ENST00000265715.7:c.*614C>T | ENSP00000265715.3:n.*614C>T | |
| NM_000441.1:c.*614C>T | NP_000432.1:n.*614C>T | |
| XM_005250425.2:c.*614C>T | XP_005250482.1:n.*614C>T | |
| XM_017012318.1:c.*614C>T | XP_016867807.1:n.*614C>T | |
| NM_000441.2:c.*614C>T MANE Select | NP_000432.1:n.*614C>T |