Linked Data
ClinVar Variation Id:
508650
ClinVar RCV Id:
RCV000611631
dbSNP Id:
rs79607027
gnomAD v2:
7-136676942-C-T
gnomAD v3:
7-136992195-C-T
gnomAD v4:
7-136992195-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.136992195C>T , CM000669.2:g.136992195C>T | GRCh38 |
| NC_000007.13:g.136676942C>T , CM000669.1:g.136676942C>T | GRCh37 |
| NC_000007.12:g.136327482C>T | NCBI36 |
| NG_011846.2:g.128544C>T , LRG_405:g.128544C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680005.1:c.-116C>T MANE Select | ENSP00000505686.1:n.-116C>T | |
| ENST00000320658.9:c.-46-22625C>T | ENSP00000319984.5:n.-46-22625C>T | |
| ENST00000401861.1:c.-116C>T | ENSP00000384401.1:n.-116C>T | |
| ENST00000445907.6:c.-46-22625C>T | ENSP00000399745.2:n.-46-22625C>T | |
| ENST00000453373.5:c.-46-22625C>T | ENSP00000415386.1:n.-46-22625C>T | |
| NM_000739.2:c.-116C>T , LRG_405t1:c.-116C>T | NP_000730.1:n.-116C>T | |
| NM_001006626.1:c.-116C>T | NP_001006627.1:n.-116C>T | |
| NM_001006627.1:c.-46-22625C>T | NP_001006628.1:n.-46-22625C>T | |
| NM_001006628.1:c.-116C>T | NP_001006629.1:n.-116C>T | |
| NM_001006629.1:c.-46-22625C>T | NP_001006630.1:n.-46-22625C>T | |
| NM_001006630.1:c.-116C>T , LRG_405t2:c.-116C>T | NP_001006631.1:n.-116C>T | |
| NM_001006631.1:c.-116C>T | NP_001006632.1:n.-116C>T | |
| NM_001006632.1:c.-46-22625C>T | NP_001006633.1:n.-46-22625C>T | |
| NR_046103.1:n.341+40599G>A | ||
| XM_011515769.1:c.-116C>T | XP_011514071.1:n.-116C>T | |
| XM_011515770.1:c.-116C>T | XP_011514072.1:n.-116C>T | |
| XM_011515771.1:c.-116C>T | XP_011514073.1:n.-116C>T | |
| XM_024446648.1:c.-116C>T | XP_024302416.1:n.-116C>T | |
| NM_001006626.2:c.-116C>T | NP_001006627.1:n.-116C>T | |
| NM_001006627.2:c.-46-22625C>T | NP_001006628.1:n.-46-22625C>T | |
| NM_001006628.2:c.-116C>T | NP_001006629.1:n.-116C>T | |
| NM_001006629.2:c.-46-22625C>T | NP_001006630.1:n.-46-22625C>T | |
| NM_001006631.2:c.-116C>T | NP_001006632.1:n.-116C>T | |
| NM_001006632.2:c.-46-22625C>T | NP_001006633.1:n.-46-22625C>T | |
| NM_000739.3:c.-116C>T | NP_000730.1:n.-116C>T | |
| NM_001006626.3:c.-116C>T | NP_001006627.1:n.-116C>T | |
| NM_001006627.3:c.-46-22625C>T | NP_001006628.1:n.-46-22625C>T | |
| NM_001006628.3:c.-116C>T | NP_001006629.1:n.-116C>T | |
| NM_001006629.3:c.-46-22625C>T | NP_001006630.1:n.-46-22625C>T | |
| NM_001006630.2:c.-116C>T MANE Select | NP_001006631.1:n.-116C>T | |
| NM_001006631.3:c.-116C>T | NP_001006632.1:n.-116C>T | |
| NM_001006632.3:c.-46-22625C>T | NP_001006633.1:n.-46-22625C>T | |
| NM_001378972.1:c.-116C>T | NP_001365901.1:n.-116C>T | |
| NM_001378973.1:c.-46-22625C>T | NP_001365902.1:n.-46-22625C>T |