Linked Data
ClinVar Variation Id:
1551541
ClinVar RCV Id:
RCV002177964
dbSNP Id:
rs374383186
ExAC:
6:42928652 G / A
gnomAD v2:
6-42928652-G-A
gnomAD v3:
6-42960914-G-A
gnomAD v4:
6-42960914-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42960914G>A , CM000668.2:g.42960914G>A | GRCh38 |
| NC_000006.11:g.42928652G>A , CM000668.1:g.42928652G>A | GRCh37 |
| NC_000006.10:g.43036630G>A | NCBI36 |
| NG_008396.1:g.5153G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372808.4:c.147G>A MANE Select | ENSP00000361894.3:p.Leu49= | |
| ENST00000372808.3:c.147G>A | ENSP00000361894.3:p.Leu49= | |
| NM_018960.4:c.147G>A | NP_061833.1:p.Leu49= | |
| XM_011514493.1:c.-13-1298G>A | XP_011512795.1:n.-13-1298G>A | |
| XM_011514494.1:c.-13-1298G>A | XP_011512796.1:n.-13-1298G>A | |
| NM_001318856.1:c.9-1298G>A | NP_001305785.1:n.9-1298G>A | |
| NM_001318857.1:c.152-1848G>A | NP_001305786.1:n.152-1848G>A | |
| NM_001318858.1:c.152-1848G>A | NP_001305787.1:n.152-1848G>A | |
| NM_001318865.1:c.147G>A | NP_001305794.1:p.Leu49= | |
| NM_018960.5:c.147G>A | NP_061833.1:p.Leu49= | |
| NR_134890.1:n.690-1848G>A | ||
| NR_134891.1:n.593-1848G>A | ||
| NR_134892.1:n.593-1298G>A | ||
| NR_134899.1:n.161G>A | ||
| NM_018960.6:c.147G>A MANE Select | NP_061833.1:p.Leu49= | |
| NM_001318856.2:c.9-1298G>A | NP_001305785.1:n.9-1298G>A | |
| NM_001318857.2:c.152-1848G>A | NP_001305786.1:n.152-1848G>A | |
| NM_001318858.2:c.152-1848G>A | NP_001305787.1:n.152-1848G>A | |
| NM_001318865.2:c.147G>A | NP_001305794.1:p.Leu49= | |
| NR_134890.2:n.340-1848G>A | ||
| NR_134891.2:n.243-1848G>A | ||
| NR_134892.2:n.243-1298G>A | ||
| NR_134899.2:n.161G>A |