Linked Data
ClinVar Variation Id:
2487804
ClinVar RCV Id:
RCV004275433
dbSNP Id:
rs373879165
ExAC:
7:50694609 T / C
gnomAD v2:
7-50694609-T-C
gnomAD v4:
7-50626912-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50626912T>C , CM000669.2:g.50626912T>C | GRCh38 |
| NC_000007.13:g.50694609T>C , CM000669.1:g.50694609T>C | GRCh37 |
| NC_000007.12:g.50662103T>C | NCBI36 |
| NG_012305.1:g.171551A>G | |
| NG_012305.2:g.171551A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401949.6:c.571A>G MANE Select | ENSP00000385770.1:p.Arg191Gly | |
| ENST00000402497.6:c.397A>G | ENSP00000385748.1:p.Arg133Gly | |
| ENST00000403097.6:c.397A>G | ENSP00000385544.2:p.Arg133Gly | |
| ENST00000407526.6:c.397A>G | ENSP00000385046.1:p.Arg133Gly | |
| ENST00000643299.1:c.397A>G | ENSP00000496245.1:p.Arg133Gly | |
| ENST00000644769.1:c.*604A>G | ENSP00000495397.1:n.*604A>G | |
| ENST00000644879.1:c.685A>G | ENSP00000493728.1:p.Arg229Gly | |
| ENST00000645075.2:c.397A>G | ENSP00000495341.2:p.Arg133Gly | |
| ENST00000335866.7:c.397A>G | ENSP00000338543.3:p.Arg133Gly | |
| ENST00000357271.9:c.571A>G | ENSP00000349818.5:p.Arg191Gly | |
| ENST00000398810.6:c.397A>G | ENSP00000381790.2:p.Arg133Gly | |
| ENST00000398812.6:c.571A>G | ENSP00000381793.2:p.Arg191Gly | |
| ENST00000401949.5:c.571A>G | ENSP00000385770.1:p.Arg191Gly | |
| ENST00000402497.5:c.397A>G | ENSP00000385748.1:p.Arg133Gly | |
| ENST00000402578.5:c.397A>G | ENSP00000385189.1:p.Arg133Gly | |
| ENST00000403097.5:c.553A>G | ENSP00000385544.1:p.Arg185Gly | |
| ENST00000406641.5:c.397A>G | ENSP00000385366.1:p.Arg133Gly | |
| ENST00000407526.5:c.397A>G | ENSP00000385046.1:p.Arg133Gly | |
| ENST00000428711.1:c.19A>G | ENSP00000410920.1:p.Arg7Gly | |
| NM_001001549.2:c.571A>G | NP_001001549.1:p.Arg191Gly | |
| NM_001001550.2:c.397A>G | NP_001001550.1:p.Arg133Gly | |
| NM_001001555.2:c.397A>G | NP_001001555.1:p.Arg133Gly | |
| NM_005311.4:c.571A>G | NP_005302.3:p.Arg191Gly | |
| XM_005271760.1:c.571A>G | XP_005271817.1:p.Arg191Gly | |
| XM_005271766.3:c.397A>G | XP_005271823.1:p.Arg133Gly | |
| XM_006715704.2:c.553A>G | XP_006715767.1:p.Arg185Gly | |
| XM_011515303.1:c.571A>G | XP_011513605.1:p.Arg191Gly | |
| XM_011515304.1:c.571A>G | XP_011513606.1:p.Arg191Gly | |
| XM_011515305.1:c.553A>G | XP_011513607.1:p.Arg185Gly | |
| XM_011515306.1:c.553A>G | XP_011513608.1:p.Arg185Gly | |
| XM_011515307.1:c.553A>G | XP_011513609.1:p.Arg185Gly | |
| XM_011515308.1:c.553A>G | XP_011513610.1:p.Arg185Gly | |
| XM_011515309.1:c.553A>G | XP_011513611.1:p.Arg185Gly | |
| XM_011515310.1:c.553A>G | XP_011513612.1:p.Arg185Gly | |
| XM_011515311.1:c.553A>G | XP_011513613.1:p.Arg185Gly | |
| XM_011515312.1:c.553A>G | XP_011513614.1:p.Arg185Gly | |
| XM_011515313.1:c.397A>G | XP_011513615.1:p.Arg133Gly | |
| XM_011515314.1:c.397A>G | XP_011513616.1:p.Arg133Gly | |
| XM_011515315.1:c.397A>G | XP_011513617.1:p.Arg133Gly | |
| XM_011515316.1:c.397A>G | XP_011513618.1:p.Arg133Gly | |
| XM_011515317.1:c.397A>G | XP_011513619.1:p.Arg133Gly | |
| XM_011515318.1:c.397A>G | XP_011513620.1:p.Arg133Gly | |
| XM_011515319.1:c.397A>G | XP_011513621.1:p.Arg133Gly | |
| XM_011515320.1:c.397A>G | XP_011513622.1:p.Arg133Gly | |
| XM_011515321.1:c.397A>G | XP_011513623.1:p.Arg133Gly | |
| XM_011515322.1:c.397A>G | XP_011513624.1:p.Arg133Gly | |
| XM_011515323.1:c.388A>G | XP_011513625.1:p.Arg130Gly | |
| XM_011515324.1:c.397A>G | XP_011513626.1:p.Arg133Gly | |
| NM_001350814.1:c.571A>G | NP_001337743.1:p.Arg191Gly | |
| NM_001350815.1:c.685A>G | NP_001337744.1:p.Arg229Gly | |
| NM_001350816.1:c.553A>G | NP_001337745.1:p.Arg185Gly | |
| XM_011515323.3:c.388A>G | XP_011513625.1:p.Arg130Gly | |
| XM_017012029.2:c.919A>G | XP_016867518.1:p.Arg307Gly | |
| XM_017012030.2:c.853A>G | XP_016867519.1:p.Arg285Gly | |
| XM_017012031.2:c.784A>G | XP_016867520.1:p.Arg262Gly | |
| XM_017012032.1:c.706A>G | XP_016867521.1:p.Arg236Gly | |
| XM_017012033.1:c.706A>G | XP_016867522.1:p.Arg236Gly | |
| XM_017012034.1:c.706A>G | XP_016867523.1:p.Arg236Gly | |
| XM_017012036.2:c.688A>G | XP_016867525.1:p.Arg230Gly | |
| XM_017012037.2:c.688A>G | XP_016867526.1:p.Arg230Gly | |
| XM_017012038.2:c.688A>G | XP_016867527.1:p.Arg230Gly | |
| XM_017012039.1:c.688A>G | XP_016867528.1:p.Arg230Gly | |
| XM_017012040.2:c.688A>G | XP_016867529.1:p.Arg230Gly | |
| XM_017012042.2:c.688A>G | XP_016867531.1:p.Arg230Gly | |
| XM_017012043.1:c.688A>G | XP_016867532.1:p.Arg230Gly | |
| XM_017012045.1:c.397A>G | XP_016867534.1:p.Arg133Gly | |
| XM_017012046.2:c.571A>G | XP_016867535.1:p.Arg191Gly | |
| XM_017012047.2:c.532A>G | XP_016867536.1:p.Arg178Gly | |
| XM_017012048.2:c.532A>G | XP_016867537.1:p.Arg178Gly | |
| XM_017012049.2:c.532A>G | XP_016867538.1:p.Arg178Gly | |
| XM_017012050.2:c.532A>G | XP_016867539.1:p.Arg178Gly | |
| XM_017012053.2:c.532A>G | XP_016867542.1:p.Arg178Gly | |
| XM_017012054.2:c.532A>G | XP_016867543.1:p.Arg178Gly | |
| XM_017012055.2:c.532A>G | XP_016867544.1:p.Arg178Gly | |
| XM_017012056.2:c.532A>G | XP_016867545.1:p.Arg178Gly | |
| XM_017012058.1:c.532A>G | XP_016867547.1:p.Arg178Gly | |
| XM_017012059.2:c.532A>G | XP_016867548.1:p.Arg178Gly | |
| XM_017012060.2:c.532A>G | XP_016867549.1:p.Arg178Gly | |
| XM_017012061.2:c.532A>G | XP_016867550.1:p.Arg178Gly | |
| XM_017012062.2:c.532A>G | XP_016867551.1:p.Arg178Gly | |
| XM_017012063.2:c.397A>G | XP_016867552.1:p.Arg133Gly | |
| XM_017012064.2:c.397A>G | XP_016867553.1:p.Arg133Gly | |
| XM_017012065.2:c.397A>G | XP_016867554.1:p.Arg133Gly | |
| XM_017012067.1:c.397A>G | XP_016867556.1:p.Arg133Gly | |
| XM_017012068.2:c.397A>G | XP_016867557.1:p.Arg133Gly | |
| XM_024446726.1:c.820A>G | XP_024302494.1:p.Arg274Gly | |
| XM_024446728.1:c.553A>G | XP_024302496.1:p.Arg185Gly | |
| XM_024446729.1:c.532A>G | XP_024302497.1:p.Arg178Gly | |
| XM_024446730.1:c.532A>G | XP_024302498.1:p.Arg178Gly | |
| NM_001350814.2:c.571A>G MANE Select | NP_001337743.1:p.Arg191Gly | |
| NM_001001549.3:c.571A>G | NP_001001549.1:p.Arg191Gly | |
| NM_001001550.3:c.397A>G | NP_001001550.1:p.Arg133Gly | |
| NM_001001555.3:c.397A>G | NP_001001555.1:p.Arg133Gly | |
| NM_001350815.2:c.685A>G | NP_001337744.1:p.Arg229Gly | |
| NM_001350816.3:c.397A>G | NP_001337745.2:p.Arg133Gly | |
| NM_001371008.1:c.397A>G | NP_001357937.1:p.Arg133Gly | |
| NM_001371009.1:c.718A>G | NP_001357938.1:p.Arg240Gly |