Linked Data
ClinVar Variation Id:
358697
ClinVar RCV Id:
RCV000304082
dbSNP Id:
rs41281081
gnomAD v2:
7-116436265-G-A
gnomAD v3:
7-116796211-G-A
gnomAD v4:
7-116796211-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116796211G>A , CM000669.2:g.116796211G>A | GRCh38 |
| NC_000007.13:g.116436265G>A , CM000669.1:g.116436265G>A | GRCh37 |
| NC_000007.12:g.116223501G>A | NCBI36 |
| NG_008996.1:g.128807G>A , LRG_662:g.128807G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436117.3:c.*1865G>A | ENSP00000410980.2:n.*1865G>A | |
| ENST00000318493.11:c.*87G>A | ENSP00000317272.6:n.*87G>A | |
| ENST00000397752.8:c.*87G>A MANE Select | ENSP00000380860.3:n.*87G>A | |
| ENST00000318493.10:c.*87G>A | ENSP00000317272.6:n.*87G>A | |
| ENST00000397752.7:c.*87G>A | ENSP00000380860.3:n.*87G>A | |
| NM_000245.2:c.*87G>A | NP_000236.2:n.*87G>A | |
| NM_001127500.1:c.*87G>A , LRG_662t1:c.*87G>A | NP_001120972.1:n.*87G>A | |
| XM_006715990.2:c.*87G>A | XP_006716053.1:n.*87G>A | |
| XM_006715991.2:c.*87G>A | XP_006716054.1:n.*87G>A | |
| XM_011516223.1:c.*87G>A | XP_011514525.1:n.*87G>A | |
| NM_000245.3:c.*87G>A | NP_000236.2:n.*87G>A | |
| NM_001127500.2:c.*87G>A | NP_001120972.1:n.*87G>A | |
| NM_001324402.1:c.*87G>A | NP_001311331.1:n.*87G>A | |
| XR_001744772.1:n.4391G>A | ||
| NM_001127500.3:c.*87G>A | NP_001120972.1:n.*87G>A | |
| NM_000245.4:c.*87G>A MANE Select | NP_000236.2:n.*87G>A | |
| NM_001324402.2:c.*87G>A | NP_001311331.1:n.*87G>A |