Linked Data
ClinVar Variation Id:
345099
ClinVar RCV Id:
RCV000280370
RCV000286189
RCV000291065
RCV000320254
RCV000343451
RCV000377231
RCV000390836
dbSNP Id:
rs886058454
gnomAD v4:
3-38549805-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38549805C>A , CM000665.2:g.38549805C>A | GRCh38 |
| NC_000003.11:g.38591296C>A , CM000665.1:g.38591296C>A | GRCh37 |
| NC_000003.10:g.38566300C>A | NCBI36 |
| NG_008934.1:g.104868G>T , LRG_289:g.104868G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327956.7:c.*516G>T | ENSP00000333674.7:n.*516G>T | |
| ENST00000333535.9:c.*516G>T | ENSP00000328968.4:n.*516G>T | |
| ENST00000413689.6:c.*516G>T MANE Plus Clinical | ENSP00000410257.1:n.*516G>T | |
| ENST00000423572.7:c.*516G>T MANE Select | ENSP00000398266.2:n.*516G>T | |
| ENST00000333535.8:c.*516G>T | ENSP00000328968.4:n.*516G>T | |
| ENST00000413689.5:c.*516G>T | ENSP00000410257.1:n.*516G>T | |
| ENST00000414099.6:c.*516G>T | ENSP00000398962.2:n.*516G>T | |
| ENST00000423572.6:c.*516G>T | ENSP00000398266.2:n.*516G>T | |
| ENST00000425664.5:c.*516G>T | ENSP00000416634.1:n.*516G>T | |
| ENST00000451551.6:c.*516G>T | ENSP00000388797.2:n.*516G>T | |
| ENST00000455624.6:c.*516G>T | ENSP00000399524.2:n.*516G>T | |
| NM_000335.4:c.*516G>T , LRG_289t2:c.*516G>T | NP_000326.2:n.*516G>T | |
| NM_001099404.1:c.*516G>T , LRG_289t3:c.*516G>T | NP_001092874.1:n.*516G>T | |
| NM_001099405.1:c.*516G>T | NP_001092875.1:n.*516G>T | |
| NM_001160160.1:c.*516G>T | NP_001153632.1:n.*516G>T | |
| NM_001160161.1:c.*516G>T | NP_001153633.1:n.*516G>T | |
| NM_198056.2:c.*516G>T , LRG_289t1:c.*516G>T | NP_932173.1:n.*516G>T | |
| XM_006713282.2:c.*516G>T | XP_006713345.1:n.*516G>T | |
| XM_011533991.1:c.*516G>T | XP_011532293.1:n.*516G>T | |
| XM_011533992.1:c.*516G>T | XP_011532294.1:n.*516G>T | |
| NM_001354701.1:c.*516G>T | NP_001341630.1:n.*516G>T | |
| XM_011533991.2:c.*516G>T | XP_011532293.1:n.*516G>T | |
| XM_017007017.1:c.*516G>T | XP_016862506.1:n.*516G>T | |
| NM_000335.5:c.*516G>T MANE Select | NP_000326.2:n.*516G>T | |
| NM_001160160.2:c.*516G>T | NP_001153632.1:n.*516G>T | |
| NM_001354701.2:c.*516G>T | NP_001341630.1:n.*516G>T | |
| NM_001099404.2:c.*516G>T MANE Plus Clinical | NP_001092874.1:n.*516G>T | |
| NM_001099405.2:c.*516G>T | NP_001092875.1:n.*516G>T | |
| NM_001160161.2:c.*516G>T | NP_001153633.1:n.*516G>T | |
| NM_198056.3:c.*516G>T | NP_932173.1:n.*516G>T |