Linked Data
ClinVar Variation Id:
365139
dbSNP Id:
rs78624767
gnomAD v2:
9-131303836-C-G
gnomAD v3:
9-128541557-C-G
gnomAD v4:
9-128541557-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128541557C>G , CM000671.2:g.128541557C>G | GRCh38 |
| NC_000009.11:g.131303836C>G , CM000671.1:g.131303836C>G | GRCh37 |
| NC_000009.10:g.130343657C>G | NCBI36 |
| NG_012073.1:g.41866C>G , LRG_484:g.41866C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1555C>G | ENSP00000507095.1:n.*1555C>G | |
| ENST00000683288.1:c.*2483C>G | ENSP00000507477.1:n.*2483C>G | |
| ENST00000683748.1:c.*387C>G | ENSP00000507377.1:n.*387C>G | |
| ENST00000683905.1:c.*1160C>G | ENSP00000506960.1:n.*1160C>G | |
| ENST00000684139.1:c.*387C>G | ENSP00000507295.1:n.*387C>G | |
| ENST00000684210.1:n.2197C>G | ||
| ENST00000684314.1:c.*387C>G | ENSP00000507700.1:n.*387C>G | |
| ENST00000684331.1:c.*1204C>G | ENSP00000507431.1:n.*1204C>G | |
| ENST00000684463.1:n.1122C>G | ||
| ENST00000684646.1:c.*387C>G | ENSP00000507723.1:n.*387C>G | |
| ENST00000309971.9:c.*387C>G MANE Select | ENSP00000308622.5:n.*387C>G | |
| ENST00000309971.8:c.*387C>G | ENSP00000308622.4:n.*387C>G | |
| NM_001003722.1:c.*387C>G , LRG_484t1:c.*387C>G | NP_001003722.1:n.*387C>G | |
| XM_006717059.2:c.*387C>G | XP_006717122.1:n.*387C>G | |
| XM_006717060.2:c.*387C>G | XP_006717123.1:n.*387C>G | |
| XM_011518549.1:c.*387C>G | XP_011516851.1:n.*387C>G | |
| XM_011518550.1:c.*387C>G | XP_011516852.1:n.*387C>G | |
| XM_011518551.1:c.*387C>G | XP_011516853.1:n.*387C>G | |
| XM_011518552.1:c.*387C>G | XP_011516854.1:n.*387C>G | |
| XR_242681.3:n.100+1822G>C | ||
| XM_006717059.3:c.*387C>G | XP_006717122.1:n.*387C>G | |
| XM_006717060.3:c.*387C>G | XP_006717123.1:n.*387C>G | |
| XM_011518551.2:c.*387C>G | XP_011516853.1:n.*387C>G | |
| XM_024447519.1:c.*387C>G | XP_024303287.1:n.*387C>G | |
| NM_001003722.2:c.*387C>G MANE Select | NP_001003722.1:n.*387C>G |