Linked Data
ClinVar Variation Id:
534544
ClinVar RCV Id:
RCV001155455
dbSNP Id:
rs200316862
ExAC:
6:39895156 C / T
gnomAD v2:
6-39895156-C-T
gnomAD v3:
6-39927417-C-T
gnomAD v4:
6-39927417-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39927417C>T , CM000668.2:g.39927417C>T | GRCh38 |
| NC_000006.11:g.39895156C>T , CM000668.1:g.39895156C>T | GRCh37 |
| NC_000006.10:g.40003134C>T | NCBI36 |
| NG_009297.1:g.12099G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340692.10:c.162G>A MANE Select | ENSP00000344794.5:p.Ala54= | |
| ENST00000645522.1:n.300G>A | ||
| ENST00000340692.9:c.162G>A | ENSP00000344794.5:p.Ala54= | |
| ENST00000373181.8:c.-100G>A | ENSP00000362277.4:n.-100G>A | |
| ENST00000373186.8:c.162G>A | ENSP00000362282.4:p.Ala54= | |
| ENST00000373188.6:c.162G>A | ENSP00000362284.2:p.Ala54= | |
| ENST00000373195.7:c.-11-1572G>A | ENSP00000362291.3:n.-11-1572G>A | |
| ENST00000425303.6:c.162G>A | ENSP00000416478.2:p.Ala54= | |
| ENST00000432280.2:c.75G>A | ENSP00000410809.2:p.Ala25= | |
| ENST00000473742.1:n.131-1572G>A | ||
| ENST00000487924.1:c.162G>A | ENSP00000418315.1:p.Ala54= | |
| NM_001075098.3:c.162G>A | NP_001068566.1:p.Ala54= | |
| NM_005943.5:c.162G>A | NP_005934.2:p.Ala54= | |
| NR_033233.1:n.258-1572G>A | ||
| XM_011514632.1:c.162G>A | XP_011512934.1:p.Ala54= | |
| XM_011514633.1:c.162G>A | XP_011512935.1:p.Ala54= | |
| XM_011514634.1:c.-11-1572G>A | XP_011512936.1:n.-11-1572G>A | |
| XM_011514635.1:c.162G>A | XP_011512937.1:p.Ala54= | |
| XR_926225.1:n.207G>A | ||
| NM_001358529.1:c.162G>A | NP_001345458.1:p.Ala54= | |
| NM_001358530.1:c.162G>A | NP_001345459.1:p.Ala54= | |
| NM_001358531.1:c.-11-1572G>A | NP_001345460.1:n.-11-1572G>A | |
| NM_001358533.1:c.-11-1572G>A | NP_001345462.1:n.-11-1572G>A | |
| NM_001358534.1:c.-100G>A | NP_001345463.1:n.-100G>A | |
| NM_001358530.2:c.162G>A MANE Select | NP_001345459.1:p.Ala54= | |
| NM_001075098.4:c.162G>A | NP_001068566.1:p.Ala54= | |
| NM_001358529.2:c.162G>A | NP_001345458.1:p.Ala54= | |
| NM_001358531.2:c.-11-1572G>A | NP_001345460.1:n.-11-1572G>A | |
| NM_001358533.2:c.-11-1572G>A | NP_001345462.1:n.-11-1572G>A | |
| NR_033233.2:n.169-1572G>A | ||
| NM_001358534.2:c.-100G>A | NP_001345463.1:n.-100G>A | |
| NM_005943.6:c.162G>A | NP_005934.2:p.Ala54= |