Linked Data
dbSNP Id:
rs774732509
ExAC:
6:135611584 C / G
gnomAD v2:
6-135611584-C-G
gnomAD v4:
6-135290446-C-G
COSMIC:
COSM3829114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135290446C>G , CM000668.2:g.135290446C>G | GRCh38 |
| NC_000006.11:g.135611584C>G , CM000668.1:g.135611584C>G | GRCh37 |
| NC_000006.10:g.135653277C>G | NCBI36 |
| NG_008643.1:g.212320G>C | |
| NG_008643.2:g.212320G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265602.11:c.3565G>C MANE Select | ENSP00000265602.6:p.Gly1189Arg | |
| ENST00000498558.6:n.606G>C | ||
| ENST00000527681.2:c.1234G>C | ||
| ENST00000679434.1:c.5181G>C | ENSP00000505592.1:n.5181G>C | |
| ENST00000679450.1:c.3304G>C | ENSP00000506494.1:p.Gly1102Arg | |
| ENST00000679490.1:n.2940G>C | ||
| ENST00000679502.1:n.2361-4799G>C | ||
| ENST00000679589.1:c.*3593G>C | ENSP00000506644.1:n.*3593G>C | |
| ENST00000679668.1:c.5097G>C | ENSP00000505364.1:n.5097G>C | |
| ENST00000679672.1:c.*1540G>C | ENSP00000505697.1:n.*1540G>C | |
| ENST00000679711.1:c.1859G>C | ||
| ENST00000679742.1:c.4896-4799G>C | ENSP00000504890.1:n.4896-4799G>C | |
| ENST00000679890.1:n.2056G>C | ||
| ENST00000679925.1:c.3486-4799G>C | ENSP00000505502.1:n.3486-4799G>C | |
| ENST00000679943.1:c.3626G>C | ENSP00000505663.1:n.3626G>C | |
| ENST00000680071.1:n.4338G>C | ||
| ENST00000680119.1:c.3790G>C | ENSP00000506403.1:n.3790G>C | |
| ENST00000680328.1:n.674G>C | ||
| ENST00000680337.1:c.944-4799G>C | ||
| ENST00000680561.1:n.6229-4799G>C | ||
| ENST00000680826.1:c.3750G>C | ENSP00000505224.1:n.3750G>C | |
| ENST00000680840.1:c.3793G>C | ENSP00000505809.1:n.3793G>C | |
| ENST00000680965.1:c.*1019G>C | ENSP00000505398.1:n.*1019G>C | |
| ENST00000681022.1:c.3565G>C | ENSP00000505121.1:p.Gly1189Arg | |
| ENST00000681057.1:n.2744-4799G>C | ||
| ENST00000681196.1:n.4259-4799G>C | ||
| ENST00000681301.1:c.3412G>C | ENSP00000505093.1:p.Gly1138Arg | |
| ENST00000681331.1:n.1294G>C | ||
| ENST00000681332.1:n.4082G>C | ||
| ENST00000681340.1:c.3565G>C | ENSP00000505666.1:p.Gly1189Arg | |
| ENST00000681365.1:c.3565G>C | ENSP00000506604.1:p.Gly1189Arg | |
| ENST00000681488.1:c.3434G>C | ENSP00000505884.1:n.3434G>C | |
| ENST00000681522.1:c.3565G>C | ENSP00000506005.1:p.Gly1189Arg | |
| ENST00000681556.1:n.3699G>C | ||
| ENST00000681718.1:c.*2052G>C | ENSP00000505266.1:n.*2052G>C | |
| ENST00000681754.1:n.4253G>C | ||
| ENST00000681828.1:c.5121G>C | ENSP00000505608.1:n.5121G>C | |
| ENST00000681841.1:c.3565G>C | ENSP00000504965.1:p.Gly1189Arg | |
| ENST00000681860.1:c.3381G>C | ENSP00000506250.1:n.3381G>C | |
| ENST00000265602.10:c.3565G>C | ENSP00000265602.6:p.Gly1189Arg | |
| ENST00000367799.6:c.1985-4799G>C | ||
| ENST00000367800.8:c.3565G>C | ENSP00000356774.4:p.Gly1189Arg | |
| ENST00000457866.6:c.3565G>C | ENSP00000388650.2:p.Gly1189Arg | |
| ENST00000475846.6:c.1995G>C | ||
| ENST00000487135.1:n.155-4799G>C | ||
| ENST00000498558.5:n.414G>C | ||
| ENST00000527681.1:c.174G>C | ||
| NM_001134830.1:c.3565G>C | NP_001128302.1:p.Gly1189Arg | |
| NM_001134831.1:c.3565G>C | NP_001128303.1:p.Gly1189Arg | |
| NM_017651.4:c.3565G>C | NP_060121.3:p.Gly1189Arg | |
| XM_011535910.1:c.3565G>C | XP_011534212.1:p.Gly1189Arg | |
| XM_011535911.1:c.3565G>C | XP_011534213.1:p.Gly1189Arg | |
| XM_011535914.1:c.*86G>C | XP_011534216.1:n.*86G>C | |
| XM_011535915.1:c.3486-4799G>C | XP_011534217.1:n.3486-4799G>C | |
| XR_942488.1:n.5407G>C | ||
| XR_942490.1:n.5328-4799G>C | ||
| XR_942493.1:n.5268G>C | ||
| XR_942494.1:n.5105G>C | ||
| NM_001350503.1:c.3565G>C | NP_001337432.1:p.Gly1189Arg | |
| NM_001350504.1:c.3486-4799G>C | NP_001337433.1:n.3486-4799G>C | |
| XM_011535910.3:c.3565G>C | XP_011534212.1:p.Gly1189Arg | |
| XM_011535911.3:c.3565G>C | XP_011534213.1:p.Gly1189Arg | |
| XM_017010980.2:c.*86G>C | XP_016866469.1:n.*86G>C | |
| XM_017010981.2:c.3511G>C | XP_016866470.1:p.Gly1171Arg | |
| XM_024446479.1:c.3511G>C | XP_024302247.1:p.Gly1171Arg | |
| XR_001743479.2:n.5504G>C | ||
| XR_001743480.2:n.4332G>C | ||
| XR_001743481.2:n.4297G>C | ||
| XR_001743482.2:n.4200G>C | ||
| XR_001743483.2:n.5425-4799G>C | ||
| XR_001743484.2:n.5365G>C | ||
| XR_001743485.2:n.4061G>C | ||
| XR_001743486.2:n.5286-4799G>C | ||
| XR_001743487.2:n.5487G>C | ||
| XR_001743488.1:n.5729G>C | ||
| XR_001743489.2:n.5202G>C | ||
| XR_001743490.2:n.4183G>C | ||
| XR_002956286.1:n.3836G>C | ||
| XR_002956287.1:n.3757-4799G>C | ||
| NM_001134831.2:c.3565G>C MANE Select | NP_001128303.1:p.Gly1189Arg | |
| NM_001134830.2:c.3565G>C | NP_001128302.1:p.Gly1189Arg | |
| NM_001350503.2:c.3565G>C | NP_001337432.1:p.Gly1189Arg | |
| NM_001350504.2:c.3486-4799G>C | NP_001337433.1:n.3486-4799G>C | |
| NM_017651.5:c.3565G>C | NP_060121.3:p.Gly1189Arg |