Linked Data
ClinVar Variation Id:
35612
ClinVar RCV Id:
RCV000144997
RCV001533259
RCV001533256
RCV001533258
RCV001277183
RCV002226656
RCV001523332
RCV001533257
dbSNP Id:
rs1800853
ExAC:
11:17417496 G / A
gnomAD v2:
11-17417496-G-A
gnomAD v3:
11-17395949-G-A
gnomAD v4:
11-17395949-G-A
PubMed:
PMID:16525712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395949G>A , CM000673.2:g.17395949G>A | GRCh38 |
| NC_000011.9:g.17417496G>A , CM000673.1:g.17417496G>A | GRCh37 |
| NC_000011.8:g.17374072G>A | NCBI36 |
| NG_008867.1:g.85954C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3721-19C>T | ||
| ENST00000528374.2:c.711-19C>T | ||
| ENST00000529967.6:n.2459-19C>T | ||
| ENST00000532220.2:n.3334C>T | ||
| ENST00000642611.2:n.5301C>T | ||
| ENST00000644057.2:n.563-19C>T | ||
| ENST00000645004.2:n.1619-19C>T | ||
| ENST00000682051.1:n.4282-19C>T | ||
| ENST00000682110.1:n.4335-19C>T | ||
| ENST00000682140.1:c.3986-19C>T | ENSP00000507829.1:n.3986-19C>T | |
| ENST00000682185.1:n.5425-19C>T | ||
| ENST00000682204.1:c.*2258-19C>T | ENSP00000507094.1:n.*2258-19C>T | |
| ENST00000682215.1:n.4702-19C>T | ||
| ENST00000682288.1:c.*2551-19C>T | ENSP00000507506.1:n.*2551-19C>T | |
| ENST00000682442.1:n.4555-19C>T | ||
| ENST00000682528.1:n.4412-19C>T | ||
| ENST00000682673.1:n.4279-19C>T | ||
| ENST00000682805.1:n.4740-19C>T | ||
| ENST00000682965.1:c.*542-19C>T | ENSP00000508229.1:n.*542-19C>T | |
| ENST00000683093.1:n.5400C>T | ||
| ENST00000683136.1:c.4003-19C>T | ENSP00000507768.1:n.4003-19C>T | |
| ENST00000683153.1:n.4377-19C>T | ||
| ENST00000683365.1:n.4437-19C>T | ||
| ENST00000683377.1:n.4335-19C>T | ||
| ENST00000683456.1:c.*1257-19C>T | ENSP00000508318.1:n.*1257-19C>T | |
| ENST00000683522.1:n.4335-19C>T | ||
| ENST00000683562.1:c.*2289-19C>T | ENSP00000508265.1:n.*2289-19C>T | |
| ENST00000683693.1:n.5748C>T | ||
| ENST00000683725.1:c.4120-19C>T | ENSP00000507496.1:n.4120-19C>T | |
| ENST00000684010.1:n.4330-19C>T | ||
| ENST00000684157.1:n.5301C>T | ||
| ENST00000684253.1:n.4238-19C>T | ||
| ENST00000684288.1:c.*2292-19C>T | ENSP00000507143.1:n.*2292-19C>T | |
| ENST00000684313.1:n.3767-19C>T | ||
| ENST00000684332.1:n.4408-19C>T | ||
| ENST00000684371.1:n.4441-19C>T | ||
| ENST00000684404.1:n.5344C>T | ||
| ENST00000684442.1:n.4559-19C>T | ||
| ENST00000684555.1:c.*2332-19C>T | ENSP00000507705.1:n.*2332-19C>T | |
| ENST00000684571.1:c.3961-19C>T | ENSP00000506935.1:n.3961-19C>T | |
| ENST00000684593.1:c.*3825-19C>T | ENSP00000507005.1:n.*3825-19C>T | |
| ENST00000684711.1:c.*2516-19C>T | ENSP00000506841.1:n.*2516-19C>T | |
| ENST00000302539.9:c.4123-19C>T | ENSP00000303960.4:n.4123-19C>T | |
| ENST00000389817.8:c.4120-19C>T MANE Select | ENSP00000374467.4:n.4120-19C>T | |
| ENST00000642271.1:c.4117-19C>T | ENSP00000493749.1:n.4117-19C>T | |
| ENST00000642579.1:c.2174-19C>T | ||
| ENST00000642611.1:n.5186C>T | ||
| ENST00000642902.1:c.3902-19C>T | ||
| ENST00000643260.1:c.4120-19C>T | ENSP00000494450.1:n.4120-19C>T | |
| ENST00000643562.1:c.*2242-19C>T | ENSP00000496124.1:n.*2242-19C>T | |
| ENST00000643925.1:c.2760-19C>T | ||
| ENST00000644057.1:n.197-19C>T | ||
| ENST00000644484.1:c.*3487C>T | ENSP00000493558.1:n.*3487C>T | |
| ENST00000644675.1:c.*2292-19C>T | ENSP00000494567.1:n.*2292-19C>T | |
| ENST00000644757.1:c.*3202+315C>T | ENSP00000495085.1:n.*3202+315C>T | |
| ENST00000644772.1:c.4186-19C>T | ENSP00000494321.1:n.4186-19C>T | |
| ENST00000645004.1:n.1813-19C>T | ||
| ENST00000645076.1:c.3319-19C>T | ||
| ENST00000645417.1:c.1308-19C>T | ||
| ENST00000645744.1:c.*3866C>T | ENSP00000494564.1:n.*3866C>T | |
| ENST00000645760.1:c.4541-19C>T | ||
| ENST00000645884.1:c.*1403-19C>T | ENSP00000495516.1:n.*1403-19C>T | |
| ENST00000646003.1:c.*2222-19C>T | ENSP00000495259.1:n.*2222-19C>T | |
| ENST00000646207.1:c.*2957-19C>T | ENSP00000495025.1:n.*2957-19C>T | |
| ENST00000646276.1:c.*3505C>T | ENSP00000496070.1:n.*3505C>T | |
| ENST00000646592.1:c.3426-19C>T | ||
| ENST00000646902.1:c.4087-19C>T | ENSP00000494101.1:n.4087-19C>T | |
| ENST00000646993.1:c.*2662-19C>T | ENSP00000493720.1:n.*2662-19C>T | |
| ENST00000647013.1:c.4126-19C>T | ENSP00000496741.1:n.4126-19C>T | |
| ENST00000647015.1:c.3871-19C>T | ENSP00000495389.1:n.3871-19C>T | |
| ENST00000647086.1:c.*3706-19C>T | ENSP00000493677.1:n.*3706-19C>T | |
| ENST00000647158.1:c.*2407-19C>T | ENSP00000495744.1:n.*2407-19C>T | |
| ENST00000302539.8:c.4123-19C>T | ENSP00000303960.4:n.4123-19C>T | |
| ENST00000389817.7:c.4120-19C>T | ENSP00000374467.3:n.4120-19C>T | |
| ENST00000528374.1:c.602-19C>T | ||
| ENST00000532220.1:n.594-19C>T | ||
| NM_000352.4:c.4120-19C>T | NP_000343.2:n.4120-19C>T | |
| NM_001287174.1:c.4123-19C>T | NP_001274103.1:n.4123-19C>T | |
| XM_011520331.1:c.4120-19C>T | XP_011518633.1:n.4120-19C>T | |
| XM_011520332.1:c.4123-19C>T | XP_011518634.1:n.4123-19C>T | |
| XM_011520333.1:c.2620-19C>T | XP_011518635.1:n.2620-19C>T | |
| XR_930890.1:n.4186-19C>T | ||
| NM_001351295.1:c.4186-19C>T | NP_001338224.1:n.4186-19C>T | |
| NM_001351296.1:c.4120-19C>T | NP_001338225.1:n.4120-19C>T | |
| NM_001351297.1:c.4117-19C>T | NP_001338226.1:n.4117-19C>T | |
| NR_147094.1:n.4415-19C>T | ||
| XM_017018197.2:c.4189-19C>T | XP_016873686.1:n.4189-19C>T | |
| XM_017018199.1:c.4186-19C>T | XP_016873688.1:n.4186-19C>T | |
| XM_017018201.2:c.4189-19C>T | XP_016873690.1:n.4189-19C>T | |
| XM_017018202.1:c.2686-19C>T | XP_016873691.1:n.2686-19C>T | |
| XM_017018204.1:c.2077-19C>T | XP_016873693.1:n.2077-19C>T | |
| XM_024448668.1:c.2488-19C>T | XP_024304436.1:n.2488-19C>T | |
| XR_001747945.2:n.4261-19C>T | ||
| XR_001747946.2:n.4192-19C>T | ||
| XR_002957189.1:n.5823C>T | ||
| NM_000352.6:c.4120-19C>T MANE Select | NP_000343.2:n.4120-19C>T | |
| NM_001287174.2:c.4123-19C>T | NP_001274103.1:n.4123-19C>T | |
| NM_001351295.2:c.4186-19C>T | NP_001338224.1:n.4186-19C>T | |
| NM_001351296.2:c.4120-19C>T | NP_001338225.1:n.4120-19C>T | |
| NM_001351297.2:c.4117-19C>T | NP_001338226.1:n.4117-19C>T | |
| NR_147094.2:n.4415-19C>T | ||
| NM_001287174.3:c.4123-19C>T | NP_001274103.1:n.4123-19C>T |