Linked Data
ClinVar Variation Id:
361031
dbSNP Id:
rs543933601
ExAC:
7:95951383 C / A
gnomAD v2:
7-95951383-C-A
gnomAD v3:
7-96322071-C-A
gnomAD v4:
7-96322071-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96322071C>A , CM000669.2:g.96322071C>A | GRCh38 |
| NC_000007.13:g.95951383C>A , CM000669.1:g.95951383C>A | GRCh37 |
| NC_000007.12:g.95789319C>A | NCBI36 |
| NG_012247.1:g.5077G>T | |
| NG_012247.2:g.5077G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.-115G>T MANE Select | ENSP00000265631.6:n.-115G>T | |
| ENST00000265631.9:c.-115G>T | ENSP00000265631.5:n.-115G>T | |
| ENST00000416240.6:c.-115G>T | ENSP00000400101.2:n.-115G>T | |
| ENST00000472162.2:c.-115G>T | ENSP00000473505.1:n.-115G>T | |
| NM_001160210.1:c.-115G>T | NP_001153682.1:n.-115G>T | |
| NM_014251.2:c.-115G>T | NP_055066.1:n.-115G>T | |
| NR_027662.1:n.77G>T | ||
| XM_011515727.3:c.-236G>T | XP_011514029.1:n.-236G>T | |
| XM_017011664.2:c.-873G>T | XP_016867153.1:n.-873G>T | |
| XM_017011665.1:c.-757G>T | XP_016867154.1:n.-757G>T | |
| XR_001744525.2:n.57G>T | ||
| XR_002956405.1:n.45G>T | ||
| NM_014251.3:c.-115G>T MANE Select | NP_055066.1:n.-115G>T | |
| NR_027662.2:n.28G>T | ||
| NM_001160210.2:c.-115G>T | NP_001153682.1:n.-115G>T |