Linked Data
dbSNP Id:
rs12780845
gnomAD v2:
10-17223244-A-G
gnomAD v3:
10-17181245-A-G
gnomAD v4:
10-17181245-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17181245A>G , CM000672.2:g.17181245A>G | GRCh38 |
| NC_000010.10:g.17223244A>G , CM000672.1:g.17223244A>G | GRCh37 |
| NC_000010.9:g.17263250A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377799.8:c.65-6585T>C MANE Select | ENSP00000367030.3:n.65-6585T>C | |
| ENST00000354631.7:c.65-6585T>C | ENSP00000346652.3:n.65-6585T>C | |
| ENST00000377799.7:c.65-6585T>C | ENSP00000367030.3:n.65-6585T>C | |
| ENST00000424636.2:c.11-6585T>C | ENSP00000389497.2:n.11-6585T>C | |
| ENST00000451253.5:n.49-6585T>C | ||
| ENST00000479046.1:n.485-6585T>C | ||
| ENST00000486947.5:n.149-6585T>C | ||
| ENST00000488990.5:c.65-6585T>C | ENSP00000419625.1:n.65-6585T>C | |
| ENST00000495022.5:c.65-6585T>C | ENSP00000417594.1:n.65-6585T>C | |
| ENST00000525762.5:c.11-6585T>C | ENSP00000431476.1:n.11-6585T>C | |
| NM_004412.5:c.65-6585T>C | NP_004403.1:n.65-6585T>C | |
| XM_005252372.3:c.65-6585T>C | XP_005252429.1:n.65-6585T>C | |
| XM_005252374.3:c.65-6585T>C | XP_005252431.1:n.65-6585T>C | |
| XM_005252375.3:c.65-6585T>C | XP_005252432.1:n.65-6585T>C | |
| XM_005252376.2:c.-379-6585T>C | XP_005252433.1:n.-379-6585T>C | |
| XM_005252378.2:c.-379-6585T>C | XP_005252435.1:n.-379-6585T>C | |
| XM_006717388.2:c.65-6585T>C | XP_006717451.1:n.65-6585T>C | |
| XM_011519343.1:c.65-6585T>C | XP_011517645.1:n.65-6585T>C | |
| XM_011519344.1:c.-36-6585T>C | XP_011517646.1:n.-36-6585T>C | |
| XM_011519345.1:c.-36-6585T>C | XP_011517647.1:n.-36-6585T>C | |
| XM_011519346.1:c.-481-6585T>C | XP_011517648.1:n.-481-6585T>C | |
| XM_011519347.1:c.-36-6585T>C | XP_011517649.1:n.-36-6585T>C | |
| NM_001321006.1:c.-36-6585T>C | NP_001307935.1:n.-36-6585T>C | |
| NM_001321007.1:c.-379-6585T>C | NP_001307936.1:n.-379-6585T>C | |
| NM_001351219.1:c.65-6585T>C | NP_001338148.1:n.65-6585T>C | |
| NM_001351220.1:c.65-6585T>C | NP_001338149.1:n.65-6585T>C | |
| NM_001351221.1:c.65-6585T>C | NP_001338150.1:n.65-6585T>C | |
| NM_001351222.1:c.-379-6585T>C | NP_001338151.1:n.-379-6585T>C | |
| NM_001351223.1:c.-216-6585T>C | NP_001338152.1:n.-216-6585T>C | |
| NM_004412.6:c.65-6585T>C | NP_004403.1:n.65-6585T>C | |
| XM_005252374.5:c.65-6585T>C | XP_005252431.1:n.65-6585T>C | |
| XM_005252375.4:c.65-6585T>C | XP_005252432.1:n.65-6585T>C | |
| XM_005252378.3:c.-379-6585T>C | XP_005252435.1:n.-379-6585T>C | |
| XM_011519343.2:c.65-6585T>C | XP_011517645.1:n.65-6585T>C | |
| XM_011519344.2:c.-36-6585T>C | XP_011517646.1:n.-36-6585T>C | |
| XM_011519345.3:c.-36-6585T>C | XP_011517647.1:n.-36-6585T>C | |
| XM_017015801.1:c.65-6585T>C | XP_016871290.1:n.65-6585T>C | |
| XM_017015802.2:c.-2864-6585T>C | XP_016871291.1:n.-2864-6585T>C | |
| XM_017015803.2:c.-385-6585T>C | XP_016871292.1:n.-385-6585T>C | |
| XM_017015804.2:c.-216-6585T>C | XP_016871293.1:n.-216-6585T>C | |
| XM_017015806.1:c.-379-6585T>C | XP_016871295.1:n.-379-6585T>C | |
| XM_017015809.1:c.-36-6585T>C | XP_016871298.1:n.-36-6585T>C | |
| XM_017015810.1:c.-379-6585T>C | XP_016871299.1:n.-379-6585T>C | |
| XM_024447855.1:c.65-6585T>C | XP_024303623.1:n.65-6585T>C | |
| XM_024447856.1:c.65-6585T>C | XP_024303624.1:n.65-6585T>C | |
| XM_024447857.1:c.-216-6585T>C | XP_024303625.1:n.-216-6585T>C | |
| XM_024447858.1:c.-379-6585T>C | XP_024303626.1:n.-379-6585T>C | |
| NM_004412.7:c.65-6585T>C MANE Select | NP_004403.1:n.65-6585T>C | |
| NM_001321006.2:c.-36-6585T>C | NP_001307935.1:n.-36-6585T>C | |
| NM_001321007.2:c.-379-6585T>C | NP_001307936.1:n.-379-6585T>C | |
| NM_001351219.2:c.65-6585T>C | NP_001338148.1:n.65-6585T>C | |
| NM_001351221.2:c.65-6585T>C | NP_001338150.1:n.65-6585T>C | |
| NM_001351220.2:c.65-6585T>C | NP_001338149.1:n.65-6585T>C | |
| NM_001351222.2:c.-379-6585T>C | NP_001338151.1:n.-379-6585T>C | |
| NM_001351223.2:c.-216-6585T>C | NP_001338152.1:n.-216-6585T>C |