Linked Data
dbSNP Id:
rs2282930
gnomAD v2:
7-50754679-G-A
gnomAD v3:
7-50686982-G-A
gnomAD v4:
7-50686982-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50686982G>A , CM000669.2:g.50686982G>A | GRCh38 |
| NC_000007.13:g.50754679G>A , CM000669.1:g.50754679G>A | GRCh37 |
| NC_000007.12:g.50722173G>A | NCBI36 |
| NG_012305.1:g.111481C>T | |
| NG_012305.2:g.111481C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401949.6:c.140-12324C>T MANE Select | ENSP00000385770.1:n.140-12324C>T | |
| ENST00000402497.6:c.-35-12324C>T | ENSP00000385748.1:n.-35-12324C>T | |
| ENST00000403097.6:c.-35-12324C>T | ENSP00000385544.2:n.-35-12324C>T | |
| ENST00000407526.6:c.-35-12324C>T | ENSP00000385046.1:n.-35-12324C>T | |
| ENST00000439044.7:c.-35-12324C>T | ENSP00000413023.3:n.-35-12324C>T | |
| ENST00000643299.1:c.-35-12324C>T | ENSP00000496245.1:n.-35-12324C>T | |
| ENST00000644716.1:n.470-12324C>T | ||
| ENST00000644769.1:c.*173-12324C>T | ENSP00000495397.1:n.*173-12324C>T | |
| ENST00000644879.1:c.254-12324C>T | ENSP00000493728.1:n.254-12324C>T | |
| ENST00000645075.2:c.-35-12324C>T | ENSP00000495341.2:n.-35-12324C>T | |
| ENST00000335866.7:c.-35-12324C>T | ENSP00000338543.3:n.-35-12324C>T | |
| ENST00000357271.9:c.140-12324C>T | ENSP00000349818.5:n.140-12324C>T | |
| ENST00000398810.6:c.-35-12324C>T | ENSP00000381790.2:n.-35-12324C>T | |
| ENST00000398812.6:c.140-12324C>T | ENSP00000381793.2:n.140-12324C>T | |
| ENST00000401949.5:c.140-12324C>T | ENSP00000385770.1:n.140-12324C>T | |
| ENST00000402497.5:c.-35-12324C>T | ENSP00000385748.1:n.-35-12324C>T | |
| ENST00000402578.5:c.-35-12324C>T | ENSP00000385189.1:n.-35-12324C>T | |
| ENST00000403097.5:c.122-12324C>T | ENSP00000385544.1:n.122-12324C>T | |
| ENST00000406641.5:c.-35-12324C>T | ENSP00000385366.1:n.-35-12324C>T | |
| ENST00000407526.5:c.-35-12324C>T | ENSP00000385046.1:n.-35-12324C>T | |
| ENST00000439044.5:c.122-12324C>T | ENSP00000413023.1:n.122-12324C>T | |
| NM_001001549.2:c.140-12324C>T | NP_001001549.1:n.140-12324C>T | |
| NM_001001550.2:c.-35-12324C>T | NP_001001550.1:n.-35-12324C>T | |
| NM_001001555.2:c.-35-12324C>T | NP_001001555.1:n.-35-12324C>T | |
| NM_005311.4:c.140-12324C>T | NP_005302.3:n.140-12324C>T | |
| XM_005271760.1:c.140-12324C>T | XP_005271817.1:n.140-12324C>T | |
| XM_005271766.3:c.-35-12324C>T | XP_005271823.1:n.-35-12324C>T | |
| XM_006715704.2:c.122-12324C>T | XP_006715767.1:n.122-12324C>T | |
| XM_011515303.1:c.140-12324C>T | XP_011513605.1:n.140-12324C>T | |
| XM_011515304.1:c.140-12324C>T | XP_011513606.1:n.140-12324C>T | |
| XM_011515305.1:c.122-12324C>T | XP_011513607.1:n.122-12324C>T | |
| XM_011515306.1:c.122-12324C>T | XP_011513608.1:n.122-12324C>T | |
| XM_011515307.1:c.122-12324C>T | XP_011513609.1:n.122-12324C>T | |
| XM_011515308.1:c.122-12324C>T | XP_011513610.1:n.122-12324C>T | |
| XM_011515309.1:c.122-12324C>T | XP_011513611.1:n.122-12324C>T | |
| XM_011515310.1:c.122-12324C>T | XP_011513612.1:n.122-12324C>T | |
| XM_011515311.1:c.122-12324C>T | XP_011513613.1:n.122-12324C>T | |
| XM_011515312.1:c.122-12324C>T | XP_011513614.1:n.122-12324C>T | |
| XM_011515313.1:c.-35-12324C>T | XP_011513615.1:n.-35-12324C>T | |
| XM_011515314.1:c.-35-12324C>T | XP_011513616.1:n.-35-12324C>T | |
| XM_011515315.1:c.-35-12324C>T | XP_011513617.1:n.-35-12324C>T | |
| XM_011515316.1:c.-35-12324C>T | XP_011513618.1:n.-35-12324C>T | |
| XM_011515317.1:c.-35-12324C>T | XP_011513619.1:n.-35-12324C>T | |
| XM_011515318.1:c.-35-12324C>T | XP_011513620.1:n.-35-12324C>T | |
| XM_011515319.1:c.-35-12324C>T | XP_011513621.1:n.-35-12324C>T | |
| XM_011515320.1:c.-35-12324C>T | XP_011513622.1:n.-35-12324C>T | |
| XM_011515321.1:c.-36+8610C>T | XP_011513623.1:n.-36+8610C>T | |
| XM_011515322.1:c.-36+8610C>T | XP_011513624.1:n.-36+8610C>T | |
| XM_011515324.1:c.-35-12324C>T | XP_011513626.1:n.-35-12324C>T | |
| NM_001350814.1:c.140-12324C>T | NP_001337743.1:n.140-12324C>T | |
| NM_001350815.1:c.254-12324C>T | NP_001337744.1:n.254-12324C>T | |
| NM_001350816.1:c.122-12324C>T | NP_001337745.1:n.122-12324C>T | |
| XM_017012029.2:c.353-12324C>T | XP_016867518.1:n.353-12324C>T | |
| XM_017012030.2:c.287-12324C>T | XP_016867519.1:n.287-12324C>T | |
| XM_017012031.2:c.353-12324C>T | XP_016867520.1:n.353-12324C>T | |
| XM_017012032.1:c.140-12324C>T | XP_016867521.1:n.140-12324C>T | |
| XM_017012033.1:c.140-12324C>T | XP_016867522.1:n.140-12324C>T | |
| XM_017012034.1:c.140-12324C>T | XP_016867523.1:n.140-12324C>T | |
| XM_017012036.2:c.122-12324C>T | XP_016867525.1:n.122-12324C>T | |
| XM_017012037.2:c.122-12324C>T | XP_016867526.1:n.122-12324C>T | |
| XM_017012038.2:c.122-12324C>T | XP_016867527.1:n.122-12324C>T | |
| XM_017012039.1:c.122-12324C>T | XP_016867528.1:n.122-12324C>T | |
| XM_017012040.2:c.122-12324C>T | XP_016867529.1:n.122-12324C>T | |
| XM_017012042.2:c.122-12324C>T | XP_016867531.1:n.122-12324C>T | |
| XM_017012043.1:c.122-12324C>T | XP_016867532.1:n.122-12324C>T | |
| XM_017012045.1:c.-35-12324C>T | XP_016867534.1:n.-35-12324C>T | |
| XM_017012046.2:c.140-12324C>T | XP_016867535.1:n.140-12324C>T | |
| XM_017012047.2:c.-35-12324C>T | XP_016867536.1:n.-35-12324C>T | |
| XM_017012048.2:c.-35-12324C>T | XP_016867537.1:n.-35-12324C>T | |
| XM_017012049.2:c.-35-12324C>T | XP_016867538.1:n.-35-12324C>T | |
| XM_017012050.2:c.-35-12324C>T | XP_016867539.1:n.-35-12324C>T | |
| XM_017012053.2:c.-35-12324C>T | XP_016867542.1:n.-35-12324C>T | |
| XM_017012054.2:c.-35-12324C>T | XP_016867543.1:n.-35-12324C>T | |
| XM_017012055.2:c.-35-12324C>T | XP_016867544.1:n.-35-12324C>T | |
| XM_017012056.2:c.-35-12324C>T | XP_016867545.1:n.-35-12324C>T | |
| XM_017012058.1:c.-35-12324C>T | XP_016867547.1:n.-35-12324C>T | |
| XM_017012059.2:c.-35-12324C>T | XP_016867548.1:n.-35-12324C>T | |
| XM_017012060.2:c.-36+8610C>T | XP_016867549.1:n.-36+8610C>T | |
| XM_017012061.2:c.-35-12324C>T | XP_016867550.1:n.-35-12324C>T | |
| XM_017012062.2:c.-35-12324C>T | XP_016867551.1:n.-35-12324C>T | |
| XM_017012063.2:c.-35-12324C>T | XP_016867552.1:n.-35-12324C>T | |
| XM_017012064.2:c.-35-12324C>T | XP_016867553.1:n.-35-12324C>T | |
| XM_017012065.2:c.-35-12324C>T | XP_016867554.1:n.-35-12324C>T | |
| XM_017012067.1:c.-35-12324C>T | XP_016867556.1:n.-35-12324C>T | |
| XM_017012068.2:c.-35-12324C>T | XP_016867557.1:n.-35-12324C>T | |
| XM_024446726.1:c.254-12324C>T | XP_024302494.1:n.254-12324C>T | |
| XM_024446728.1:c.122-12324C>T | XP_024302496.1:n.122-12324C>T | |
| XM_024446729.1:c.-35-12324C>T | XP_024302497.1:n.-35-12324C>T | |
| XM_024446730.1:c.-35-12324C>T | XP_024302498.1:n.-35-12324C>T | |
| NM_001350814.2:c.140-12324C>T MANE Select | NP_001337743.1:n.140-12324C>T | |
| NM_001001549.3:c.140-12324C>T | NP_001001549.1:n.140-12324C>T | |
| NM_001001550.3:c.-35-12324C>T | NP_001001550.1:n.-35-12324C>T | |
| NM_001001555.3:c.-35-12324C>T | NP_001001555.1:n.-35-12324C>T | |
| NM_001350815.2:c.254-12324C>T | NP_001337744.1:n.254-12324C>T | |
| NM_001350816.3:c.-35-12324C>T | NP_001337745.2:n.-35-12324C>T | |
| NM_001371008.1:c.-35-12324C>T | NP_001357937.1:n.-35-12324C>T | |
| NM_001371009.1:c.287-12324C>T | NP_001357938.1:n.287-12324C>T |