Linked Data
dbSNP Id:
rs755587659
ExAC:
11:17417498 A / G
gnomAD v2:
11-17417498-A-G
gnomAD v4:
11-17395951-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395951A>G , CM000673.2:g.17395951A>G | GRCh38 |
| NC_000011.9:g.17417498A>G , CM000673.1:g.17417498A>G | GRCh37 |
| NC_000011.8:g.17374074A>G | NCBI36 |
| NG_008867.1:g.85952T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3721-21T>C | ||
| ENST00000528374.2:c.711-21T>C | ||
| ENST00000529967.6:n.2459-21T>C | ||
| ENST00000532220.2:n.3332T>C | ||
| ENST00000642611.2:n.5299T>C | ||
| ENST00000644057.2:n.563-21T>C | ||
| ENST00000645004.2:n.1619-21T>C | ||
| ENST00000682051.1:n.4282-21T>C | ||
| ENST00000682110.1:n.4335-21T>C | ||
| ENST00000682140.1:c.3986-21T>C | ENSP00000507829.1:n.3986-21T>C | |
| ENST00000682185.1:n.5425-21T>C | ||
| ENST00000682204.1:c.*2258-21T>C | ENSP00000507094.1:n.*2258-21T>C | |
| ENST00000682215.1:n.4702-21T>C | ||
| ENST00000682288.1:c.*2551-21T>C | ENSP00000507506.1:n.*2551-21T>C | |
| ENST00000682442.1:n.4555-21T>C | ||
| ENST00000682528.1:n.4412-21T>C | ||
| ENST00000682673.1:n.4279-21T>C | ||
| ENST00000682805.1:n.4740-21T>C | ||
| ENST00000682965.1:c.*542-21T>C | ENSP00000508229.1:n.*542-21T>C | |
| ENST00000683093.1:n.5398T>C | ||
| ENST00000683136.1:c.4003-21T>C | ENSP00000507768.1:n.4003-21T>C | |
| ENST00000683153.1:n.4377-21T>C | ||
| ENST00000683365.1:n.4437-21T>C | ||
| ENST00000683377.1:n.4335-21T>C | ||
| ENST00000683456.1:c.*1257-21T>C | ENSP00000508318.1:n.*1257-21T>C | |
| ENST00000683522.1:n.4335-21T>C | ||
| ENST00000683562.1:c.*2289-21T>C | ENSP00000508265.1:n.*2289-21T>C | |
| ENST00000683693.1:n.5746T>C | ||
| ENST00000683725.1:c.4120-21T>C | ENSP00000507496.1:n.4120-21T>C | |
| ENST00000684010.1:n.4330-21T>C | ||
| ENST00000684157.1:n.5299T>C | ||
| ENST00000684253.1:n.4238-21T>C | ||
| ENST00000684288.1:c.*2292-21T>C | ENSP00000507143.1:n.*2292-21T>C | |
| ENST00000684313.1:n.3767-21T>C | ||
| ENST00000684332.1:n.4408-21T>C | ||
| ENST00000684371.1:n.4441-21T>C | ||
| ENST00000684404.1:n.5342T>C | ||
| ENST00000684442.1:n.4559-21T>C | ||
| ENST00000684555.1:c.*2332-21T>C | ENSP00000507705.1:n.*2332-21T>C | |
| ENST00000684571.1:c.3961-21T>C | ENSP00000506935.1:n.3961-21T>C | |
| ENST00000684593.1:c.*3825-21T>C | ENSP00000507005.1:n.*3825-21T>C | |
| ENST00000684711.1:c.*2516-21T>C | ENSP00000506841.1:n.*2516-21T>C | |
| ENST00000302539.9:c.4123-21T>C | ENSP00000303960.4:n.4123-21T>C | |
| ENST00000389817.8:c.4120-21T>C MANE Select | ENSP00000374467.4:n.4120-21T>C | |
| ENST00000642271.1:c.4117-21T>C | ENSP00000493749.1:n.4117-21T>C | |
| ENST00000642579.1:c.2174-21T>C | ||
| ENST00000642611.1:n.5184T>C | ||
| ENST00000642902.1:c.3902-21T>C | ||
| ENST00000643260.1:c.4120-21T>C | ENSP00000494450.1:n.4120-21T>C | |
| ENST00000643562.1:c.*2242-21T>C | ENSP00000496124.1:n.*2242-21T>C | |
| ENST00000643925.1:c.2760-21T>C | ||
| ENST00000644057.1:n.197-21T>C | ||
| ENST00000644484.1:c.*3485T>C | ENSP00000493558.1:n.*3485T>C | |
| ENST00000644675.1:c.*2292-21T>C | ENSP00000494567.1:n.*2292-21T>C | |
| ENST00000644757.1:c.*3202+313T>C | ENSP00000495085.1:n.*3202+313T>C | |
| ENST00000644772.1:c.4186-21T>C | ENSP00000494321.1:n.4186-21T>C | |
| ENST00000645004.1:n.1813-21T>C | ||
| ENST00000645076.1:c.3319-21T>C | ||
| ENST00000645417.1:c.1308-21T>C | ||
| ENST00000645744.1:c.*3864T>C | ENSP00000494564.1:n.*3864T>C | |
| ENST00000645760.1:c.4541-21T>C | ||
| ENST00000645884.1:c.*1403-21T>C | ENSP00000495516.1:n.*1403-21T>C | |
| ENST00000646003.1:c.*2222-21T>C | ENSP00000495259.1:n.*2222-21T>C | |
| ENST00000646207.1:c.*2957-21T>C | ENSP00000495025.1:n.*2957-21T>C | |
| ENST00000646276.1:c.*3503T>C | ENSP00000496070.1:n.*3503T>C | |
| ENST00000646592.1:c.3426-21T>C | ||
| ENST00000646902.1:c.4087-21T>C | ENSP00000494101.1:n.4087-21T>C | |
| ENST00000646993.1:c.*2662-21T>C | ENSP00000493720.1:n.*2662-21T>C | |
| ENST00000647013.1:c.4126-21T>C | ENSP00000496741.1:n.4126-21T>C | |
| ENST00000647015.1:c.3871-21T>C | ENSP00000495389.1:n.3871-21T>C | |
| ENST00000647086.1:c.*3706-21T>C | ENSP00000493677.1:n.*3706-21T>C | |
| ENST00000647158.1:c.*2407-21T>C | ENSP00000495744.1:n.*2407-21T>C | |
| ENST00000302539.8:c.4123-21T>C | ENSP00000303960.4:n.4123-21T>C | |
| ENST00000389817.7:c.4120-21T>C | ENSP00000374467.3:n.4120-21T>C | |
| ENST00000528374.1:c.602-21T>C | ||
| ENST00000532220.1:n.594-21T>C | ||
| NM_000352.4:c.4120-21T>C | NP_000343.2:n.4120-21T>C | |
| NM_001287174.1:c.4123-21T>C | NP_001274103.1:n.4123-21T>C | |
| XM_011520331.1:c.4120-21T>C | XP_011518633.1:n.4120-21T>C | |
| XM_011520332.1:c.4123-21T>C | XP_011518634.1:n.4123-21T>C | |
| XM_011520333.1:c.2620-21T>C | XP_011518635.1:n.2620-21T>C | |
| XR_930890.1:n.4186-21T>C | ||
| NM_001351295.1:c.4186-21T>C | NP_001338224.1:n.4186-21T>C | |
| NM_001351296.1:c.4120-21T>C | NP_001338225.1:n.4120-21T>C | |
| NM_001351297.1:c.4117-21T>C | NP_001338226.1:n.4117-21T>C | |
| NR_147094.1:n.4415-21T>C | ||
| XM_017018197.2:c.4189-21T>C | XP_016873686.1:n.4189-21T>C | |
| XM_017018199.1:c.4186-21T>C | XP_016873688.1:n.4186-21T>C | |
| XM_017018201.2:c.4189-21T>C | XP_016873690.1:n.4189-21T>C | |
| XM_017018202.1:c.2686-21T>C | XP_016873691.1:n.2686-21T>C | |
| XM_017018204.1:c.2077-21T>C | XP_016873693.1:n.2077-21T>C | |
| XM_024448668.1:c.2488-21T>C | XP_024304436.1:n.2488-21T>C | |
| XR_001747945.2:n.4261-21T>C | ||
| XR_001747946.2:n.4192-21T>C | ||
| XR_002957189.1:n.5821T>C | ||
| NM_000352.6:c.4120-21T>C MANE Select | NP_000343.2:n.4120-21T>C | |
| NM_001287174.2:c.4123-21T>C | NP_001274103.1:n.4123-21T>C | |
| NM_001351295.2:c.4186-21T>C | NP_001338224.1:n.4186-21T>C | |
| NM_001351296.2:c.4120-21T>C | NP_001338225.1:n.4120-21T>C | |
| NM_001351297.2:c.4117-21T>C | NP_001338226.1:n.4117-21T>C | |
| NR_147094.2:n.4415-21T>C | ||
| NM_001287174.3:c.4123-21T>C | NP_001274103.1:n.4123-21T>C |