Linked Data
ClinVar Variation Id:
358823
dbSNP Id:
rs113405088
gnomAD v2:
7-127895020-C-T
gnomAD v3:
7-128254967-C-T
gnomAD v4:
7-128254967-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128254967C>T , CM000669.2:g.128254967C>T | GRCh38 |
| NC_000007.13:g.127895020C>T , CM000669.1:g.127895020C>T | GRCh37 |
| NC_000007.12:g.127682256C>T | NCBI36 |
| NG_007450.1:g.18690C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308868.5:c.*204C>T MANE Select | ENSP00000312652.4:n.*204C>T | |
| ENST00000308868.4:c.*204C>T | ENSP00000312652.4:n.*204C>T | |
| NM_000230.2:c.*204C>T | NP_000221.1:n.*204C>T | |
| XM_005250340.3:c.*204C>T | XP_005250397.1:n.*204C>T | |
| XM_005250340.5:c.*204C>T | XP_005250397.1:n.*204C>T | |
| NM_000230.3:c.*204C>T MANE Select | NP_000221.1:n.*204C>T |