Linked Data
ClinVar Variation Id:
908057
ClinVar RCV Id:
RCV001158322
dbSNP Id:
rs1795668471
gnomAD v4:
7-116796126-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116796126G>T , CM000669.2:g.116796126G>T | GRCh38 |
| NC_000007.13:g.116436180G>T , CM000669.1:g.116436180G>T | GRCh37 |
| NC_000007.12:g.116223416G>T | NCBI36 |
| NG_008996.1:g.128722G>T , LRG_662:g.128722G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*1780G>T | ENSP00000410980.2:n.*1780G>T | |
| ENST00000318493.11:c.*2G>T | ENSP00000317272.6:n.*2G>T | |
| ENST00000397752.8:c.*2G>T MANE Select | ENSP00000380860.3:n.*2G>T | |
| ENST00000318493.10:c.*2G>T | ENSP00000317272.6:n.*2G>T | |
| ENST00000397752.7:c.*2G>T | ENSP00000380860.3:n.*2G>T | |
| NM_000245.2:c.*2G>T | NP_000236.2:n.*2G>T | |
| NM_001127500.1:c.*2G>T , LRG_662t1:c.*2G>T | NP_001120972.1:n.*2G>T | |
| XM_006715990.2:c.*2G>T | XP_006716053.1:n.*2G>T | |
| XM_006715991.2:c.*2G>T | XP_006716054.1:n.*2G>T | |
| XM_011516223.1:c.*2G>T | XP_011514525.1:n.*2G>T | |
| NM_000245.3:c.*2G>T | NP_000236.2:n.*2G>T | |
| NM_001127500.2:c.*2G>T | NP_001120972.1:n.*2G>T | |
| NM_001324402.1:c.*2G>T | NP_001311331.1:n.*2G>T | |
| XR_001744772.1:n.4306G>T | ||
| NM_001127500.3:c.*2G>T | NP_001120972.1:n.*2G>T | |
| NM_000245.4:c.*2G>T MANE Select | NP_000236.2:n.*2G>T | |
| NM_001324402.2:c.*2G>T | NP_001311331.1:n.*2G>T |