Linked Data
ClinVar Variation Id:
959918
ClinVar RCV Id:
RCV001233352
dbSNP Id:
rs1554725979
gnomAD v4:
9-128540273-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128540273A>G , CM000671.2:g.128540273A>G | GRCh38 |
| NC_000009.11:g.131302552A>G , CM000671.1:g.131302552A>G | GRCh37 |
| NC_000009.10:g.130342373A>G | NCBI36 |
| NG_012073.1:g.40582A>G , LRG_484:g.40582A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1036-2A>G | ENSP00000507095.1:n.*1036-2A>G | |
| ENST00000683288.1:c.*1964-2A>G | ENSP00000507477.1:n.*1964-2A>G | |
| ENST00000683748.1:c.1992-2A>G | ENSP00000507377.1:n.1992-2A>G | |
| ENST00000683905.1:c.*641-2A>G | ENSP00000506960.1:n.*641-2A>G | |
| ENST00000684139.1:c.1500-2A>G | ENSP00000507295.1:n.1500-2A>G | |
| ENST00000684210.1:n.1678-2A>G | ||
| ENST00000684314.1:c.1860-2A>G | ENSP00000507700.1:n.1860-2A>G | |
| ENST00000684331.1:c.1965-2A>G | ENSP00000507431.1:n.1965-2A>G | |
| ENST00000684463.1:n.603-2A>G | ||
| ENST00000684646.1:c.1752-2A>G | ENSP00000507723.1:n.1752-2A>G | |
| ENST00000309971.9:c.1965-2A>G MANE Select | ENSP00000308622.5:n.1965-2A>G | |
| ENST00000309971.8:c.1965-2A>G | ENSP00000308622.4:n.1965-2A>G | |
| NM_001003722.1:c.1965-2A>G , LRG_484t1:c.1965-2A>G | NP_001003722.1:n.1965-2A>G | |
| XM_006717059.2:c.2001-2A>G | XP_006717122.1:n.2001-2A>G | |
| XM_006717060.2:c.1974-2A>G | XP_006717123.1:n.1974-2A>G | |
| XM_011518549.1:c.2001-2A>G | XP_011516851.1:n.2001-2A>G | |
| XM_011518550.1:c.2001-2A>G | XP_011516852.1:n.2001-2A>G | |
| XM_011518551.1:c.1992-2A>G | XP_011516853.1:n.1992-2A>G | |
| XM_011518552.1:c.1242-2A>G | XP_011516854.1:n.1242-2A>G | |
| XR_242681.3:n.100+3106T>C | ||
| XR_428600.2:n.124+697T>C | ||
| XM_006717059.3:c.2001-2A>G | XP_006717122.1:n.2001-2A>G | |
| XM_006717060.3:c.1974-2A>G | XP_006717123.1:n.1974-2A>G | |
| XM_011518551.2:c.1992-2A>G | XP_011516853.1:n.1992-2A>G | |
| XM_024447519.1:c.1974-2A>G | XP_024303287.1:n.1974-2A>G | |
| XR_428600.3:n.126+697T>C | ||
| NM_001003722.2:c.1965-2A>G MANE Select | NP_001003722.1:n.1965-2A>G |