Linked Data
ClinVar Variation Id:
324102
ClinVar RCV Id:
RCV000259210
RCV000319126
RCV000355446
RCV000695671
RCV000521091
RCV000765369
RCV002323528
RCV002278491
dbSNP Id:
rs767525556
ExAC:
17:48265485 A / G
gnomAD v2:
17-48265485-A-G
gnomAD v3:
17-50188124-A-G
gnomAD v4:
17-50188124-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188124A>G , CM000679.2:g.50188124A>G | GRCh38 |
| NC_000017.10:g.48265485A>G , CM000679.1:g.48265485A>G | GRCh37 |
| NC_000017.9:g.45620484A>G | NCBI36 |
| NG_007400.1:g.18516T>C , LRG_1:g.18516T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3233T>C MANE Select | ENSP00000225964.6:p.Val1078Ala | |
| ENST00000225964.9:c.3233T>C | ENSP00000225964.5:p.Val1078Ala | |
| ENST00000486572.1:n.431T>C | ||
| ENST00000511732.1:n.557T>C | ||
| NM_000088.3:c.3233T>C , LRG_1t1:c.3233T>C | NP_000079.2:p.Val1078Ala | |
| XM_005257058.3:c.2963T>C | XP_005257115.2:p.Val988Ala | |
| XM_005257059.3:c.2315T>C | XP_005257116.2:p.Val772Ala | |
| XM_011524341.1:c.3035T>C | XP_011522643.1:p.Val1012Ala | |
| XM_005257058.4:c.2963T>C | XP_005257115.2:p.Val988Ala | |
| XM_005257059.4:c.2315T>C | XP_005257116.2:p.Val772Ala | |
| NM_000088.4:c.3233T>C MANE Select | NP_000079.2:p.Val1078Ala |