Linked Data
ClinVar Variation Id:
356655
ClinVar RCV Id:
RCV000278880
dbSNP Id:
rs377628500
ExAC:
6:39879996 G / A
gnomAD v2:
6-39879996-G-A
gnomAD v3:
6-39912252-G-A
gnomAD v4:
6-39912252-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39912252G>A , CM000668.2:g.39912252G>A | GRCh38 |
| NC_000006.11:g.39879996G>A , CM000668.1:g.39879996G>A | GRCh37 |
| NC_000006.10:g.39987974G>A | NCBI36 |
| NG_009297.1:g.27259C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340692.10:c.981+12C>T MANE Select | ENSP00000344794.5:n.981+12C>T | |
| ENST00000645522.1:n.1119+12C>T | ||
| ENST00000340692.9:c.981+12C>T | ENSP00000344794.5:n.981+12C>T | |
| ENST00000373181.8:c.720+12C>T | ENSP00000362277.4:n.720+12C>T | |
| ENST00000373186.8:c.981+12C>T | ENSP00000362282.4:n.981+12C>T | |
| ENST00000373188.6:c.981+12C>T | ENSP00000362284.2:n.981+12C>T | |
| ENST00000373195.7:c.720+12C>T | ENSP00000362291.3:n.720+12C>T | |
| ENST00000425303.6:c.981+12C>T | ENSP00000416478.2:n.981+12C>T | |
| ENST00000432280.2:c.894+12C>T | ENSP00000410809.2:n.894+12C>T | |
| NM_001075098.3:c.981+12C>T | NP_001068566.1:n.981+12C>T | |
| NM_005943.5:c.981+12C>T | NP_005934.2:n.981+12C>T | |
| NR_033233.1:n.988+12C>T | ||
| XM_011514632.1:c.981+12C>T | XP_011512934.1:n.981+12C>T | |
| XM_011514633.1:c.981+12C>T | XP_011512935.1:n.981+12C>T | |
| XM_011514634.1:c.720+12C>T | XP_011512936.1:n.720+12C>T | |
| XM_011514635.1:c.981+12C>T | XP_011512937.1:n.981+12C>T | |
| XR_926225.1:n.1026+12C>T | ||
| NM_001358529.1:c.981+12C>T | NP_001345458.1:n.981+12C>T | |
| NM_001358530.1:c.981+12C>T | NP_001345459.1:n.981+12C>T | |
| NM_001358531.1:c.720+12C>T | NP_001345460.1:n.720+12C>T | |
| NM_001358533.1:c.720+12C>T | NP_001345462.1:n.720+12C>T | |
| NM_001358534.1:c.720+12C>T | NP_001345463.1:n.720+12C>T | |
| NM_001358530.2:c.981+12C>T MANE Select | NP_001345459.1:n.981+12C>T | |
| NM_001075098.4:c.981+12C>T | NP_001068566.1:n.981+12C>T | |
| NM_001358529.2:c.981+12C>T | NP_001345458.1:n.981+12C>T | |
| NM_001358531.2:c.720+12C>T | NP_001345460.1:n.720+12C>T | |
| NM_001358533.2:c.720+12C>T | NP_001345462.1:n.720+12C>T | |
| NR_033233.2:n.899+12C>T | ||
| NM_001358534.2:c.720+12C>T | NP_001345463.1:n.720+12C>T | |
| NM_005943.6:c.981+12C>T | NP_005934.2:n.981+12C>T |